ANK2 p.His3558Pro
c.10673A>C · VCV3910424
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.0902 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
AlphaMissense, REVEL · SaProt no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.0902 | likely benign |
|---|---|---|
| REVEL | 0.146 | moderately benign-leaning |
| SaProt | — | not scored · why |
| ⇒ AlphaMissense and REVEL both call this tolerated; SaProt makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.53 | GERP -5.4 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 28 kb · p 0.16 · regional, not allelic |
| Overall | ||
| CADD | 3.264 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.
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
- ANK2
- Protein
- p.His3558Pro
- Coding
- c.10673A>C
- MANE Select
- NM_001148
- Type
- single nucleotide variant
- Location
- chr4:113359291 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- ANK2 p.His3558= Likely benign ★★ same residue
- ANK2 p.His3558Tyr Uncertain significance ★ same residue
- ANK2 p.His3558Arg Likely benign ★ same residue
- ANK2 p.Arg1007Ter Pathogenic/Likely pathogenic ★★ same type
- ANK2 p.Arg1088Ter Pathogenic ★★ same type
- ANK2 p.Arg3113Ter Pathogenic ★★ same type
- ANK2 p.Arg888Ter Pathogenic/Likely pathogenic ★★ same type
- ANK2 p.Arg895Ter Pathogenic/Likely pathogenic ★★ 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/ank2-p-his3558pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown