ANKAR p.Phe321Ser
c.962T>C · VCV4098089
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.7428 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
AlphaMissense, SaProt · REVEL no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.7428 | likely pathogenic |
|---|---|---|
| REVEL | 0.291 | indeterminate |
| SaProt | LLR -3.35 | tolerated |
| ⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 70 kb · p 0.0059 · regional, not allelic |
| Overall | ||
| CADD | 25.7 | 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
- ANKAR
- Protein
- p.Phe321Ser
- Coding
- c.962T>C
- MANE Select
- NM_001378068
- Type
- single nucleotide variant
- Location
- chr2:189689887 (GRCh38)
- Gene constraint
- LOEUF 1.07 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.79
Similar variants
- ANKAR p.Asn938= Benign ★★ same type
- ANKAR p.Gln1419Leu Benign ★★ same type
- ANKAR p.Ile1349= Benign ★★ same type
- ANKAR p.Leu94Arg Benign ★★ same type
- ANKAR p.Thr206Ala Benign ★★ same type
- ANKAR p.Thr92= Benign ★★ same type
- ANKAR p.Tyr1262Ser Benign ★★ same type
- ANKAR p.Val776Ala Likely benign ★★ ⚠ same type
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/ankar-p-phe321ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown