Is TICAM1 p.Pro244= (c.732C>A) pathogenic?

TICAM1 p.Pro244= (c.732C>A) is classified Likely benign in TICAM1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-24). No allele count reported in gnomAD v4.1 (AN 1,584,150); Associated with herpes simplex encephalitis, susceptibility to, 4.

What condition is associated with TICAM1 p.Pro244= (c.732C>A)?

TICAM1 p.Pro244= (c.732C>A) is associated with herpes simplex encephalitis, susceptibility to, 4 (ClinVar).

How common is TICAM1 p.Pro244= (c.732C>A) in the general population?

TICAM1 p.Pro244= (c.732C>A) is no allele count reported in gnomAD v4.1 (AN 1,584,150) (gnomAD).

TICAM1 p.Pro244=

c.732C>A · rs375880539 · VCV1007314

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,584,150)

Conditions

herpes simplex encephalitis, susceptibility to, 4

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.06	GERP -4.2, phastCons 0.001
Overall
CADD	0.837	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,584,150). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: TICAM1
Protein: p.Pro244=
Coding: c.732C>A
MANE Select: NM_182919
dbSNP: rs375880539
Type: single nucleotide variant
Location: chr19:4817646 (GRCh38)
Gene constraint: LOEUF 1.802 · pLI 0.37 (gnomAD)
Structure: AlphaFold pLDDT 63.88 · 8 PDB
Residue 244: the 'disordered' region

Full TICAM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

herpes simplex encephalitis, susceptibility to, 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TICAM1 p.Pro244Leu Uncertain significance ★ ⚠ same residue
TICAM1 p.Ala111Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala309Val Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala45Asp Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala45Val Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala684Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Ala703Thr Uncertain significance ★★ ⚠ same condition
TICAM1 p.Arg132Gln Uncertain significance ★★ ⚠ 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/ticam1-p-pro244 (accessed [today's date]).

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