Is ANG p.Arg55Lys (c.164G>A) pathogenic?

ANG p.Arg55Lys (c.164G>A) is classified Pathogenic in ANG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2006-04-01). AlphaMissense: likely benign (0.0776); Absent from gnomAD v4.1; Associated with amyotrophic lateral sclerosis type 9.

What condition is associated with ANG p.Arg55Lys (c.164G>A)?

ANG p.Arg55Lys (c.164G>A) is associated with amyotrophic lateral sclerosis type 9 (ClinVar).

How common is ANG p.Arg55Lys (c.164G>A) in the general population?

ANG p.Arg55Lys (c.164G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ANG p.Arg55Lys (c.164G>A)?

AlphaMissense predicts likely benign (score 0.0776) — an in-silico prediction, not a clinical call.

ANG p.Arg55Lys

c.164G>A · rs121909538 · VCV18076

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0776 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

amyotrophic lateral sclerosis type 9

Computational evidence

Protein change
AlphaMissense	0.0776	likely benign ⚠ discordant with ClinVar
REVEL	0.348	indeterminate
SaProt	LLR -6.78	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -12	GERP -2.9
Regional constraint	o/e 0.95	unconstrained · MANE · 440 bp · p 0.49 · regional, not allelic
Overall
CADD	0.003	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ANG
Protein: p.Arg55Lys
Coding: c.164G>A
MANE Select: NM_002937 · reported on NM_001097577
dbSNP: rs121909538
Type: single nucleotide variant
Location: chr14:20693728 (GRCh38)

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

Disease context

amyotrophic lateral sclerosis type 9 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/ang-p-arg55lys (accessed [today's date]).

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