ANKH p.Ile114=
c.342C>T · rs1208081019 · VCV1645533
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
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 9.6 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 13.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,916 alleles
Filtering AF
0.000615%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000474%
Overall
0.00093%
15/1,613,714 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00267% | 37,458 |
| European (non-Finnish) | 0.0011% | 90,747 |
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
- ANKH
- Protein
- p.Ile114=
- Coding
- c.342C>T
- MANE Select
- NM_054027
- dbSNP
- rs1208081019
- Type
- single nucleotide variant
- Location
- chr5:14758570 (GRCh38)
- Gene constraint
- LOEUF 0.463 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 84.57
Similar variants
- ANKH c.1142-4A>G Pathogenic/Likely pathogenic ★★ same type
- ANKH c.96+5G>A Uncertain significance ★★ same type
- ANKH c.*3752G>A Uncertain significance ★★ same type
- ANKH p.Ala136Thr Uncertain significance ★★ ⚠ same type
- ANKH p.Ala201Thr Uncertain significance ★★ ⚠ same type
- ANKH p.Ala448Thr Uncertain significance ★★ ⚠ same type
- ANKH p.Arg453Gln Uncertain significance ★★ ⚠ same type
- ANKH p.Asn306Asp Uncertain significance ★★ ⚠ 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/ankh-p-ile114 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown