ANKRD50 p.Arg567=
c.1701G>A · rs138695266 · VCV2655074
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.559%, mid)
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 0.004 | GERP -0.1, phastCons 0.77 |
| Overall | ||
| CADD | 7.825 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.559%
Middle Eastern · 34/6,080 alleles
Filtering AF
0.411%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.36%
Overall
0.00985%
159/1,613,650 alleles · rare
exomes 139/1,461,608 · genomes 20/152,042 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.559% | 179 |
| Admixed American | 0.0451% | 2,220 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0338% | 2,959 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,675 |
| South Asian | 0.011% | 9,108 |
| European (non-Finnish) | 0.00517% | 19,342 |
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
- ANKRD50
- Protein
- p.Arg567=
- Coding
- c.1701G>A
- MANE Select
- NM_020337
- dbSNP
- rs138695266
- Type
- single nucleotide variant
- Location
- chr4:124671576 (GRCh38)
- Gene constraint
- LOEUF 0.439 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.26
Similar variants
- ANKRD50 p.Ala1053Val Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala1081Gly Uncertain significance ★ same type
- ANKRD50 p.Ala1201Ser Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala1277Val Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala219Asp Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala372Thr Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala437Val Uncertain significance ★ ⚠ same type
- ANKRD50 p.Ala469Val 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/ankrd50-p-arg567 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown