Is ROCK2 p.Ile1202= (c.3606A>C) pathogenic?

ROCK2 p.Ile1202= (c.3606A>C) is classified Benign in ROCK2 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-03-07). Rare (popmax 0.87%, eas); Associated with ROCK2-related disorder.

What condition is associated with ROCK2 p.Ile1202= (c.3606A>C)?

ROCK2 p.Ile1202= (c.3606A>C) is associated with ROCK2-related disorder (ClinVar).

How common is ROCK2 p.Ile1202= (c.3606A>C) in the general population?

ROCK2 p.Ile1202= (c.3606A>C) is rare (popmax 0.87%, eas) (gnomAD).

ROCK2 p.Ile1202=

c.3606A>C · rs55839233 · VCV3039060

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.87%, eas)

Conditions

ROCK2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.4	GERP 1.6, phastCons 1
Overall
CADD	13.53	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.87% East Asian · 356/40,904 alleles

Filtering AF 0.796% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.767%

Overall 0.0371% 492/1,325,790 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.87%	115
Remaining individualsnot grpmax-eligible	0.111%	897
South Asian	0.0924%	1,082
African / African-American	0.0296%	3,377
Admixed American	0.00216%	46,234
European (non-Finnish)	0.000103%	967,389

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ROCK2
Protein: p.Ile1202=
Coding: c.3606A>C
MANE Select: NM_004850
dbSNP: rs55839233
Type: single nucleotide variant
Location: chr2:11194258 (GRCh38)
Gene constraint: LOEUF 0.346 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 76.79 · 23 PDB
Residue 1202: the ph domain

Full ROCK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ROCK2-related disorder

Similar variants

ROCK2 p.Gln863Pro Uncertain significance ★ ⚠ same condition
ROCK2 p.Ile944Phe Uncertain significance ★ ⚠ same condition
ROCK2 p.Thr793Ile Uncertain significance ⚠ same condition
ROCK2 c.1332+8G>T Likely benign same condition
ROCK2 c.1689+9A>C Likely benign same condition
ROCK2 c.2550-8C>G Likely benign same condition
ROCK2 c.2620-6A>G Benign same condition
ROCK2 c.3688-5C>T Likely benign same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rock2-p-ile1202 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown