ANKRD16 p.Ala323=
c.969C>G · VCV3867034
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000847%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.074 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>A here scores Δ0.24 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP -0.74 | |
| Overall | ||
| CADD | 3.287 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000847%
European (non-Finnish) · 10/1,180,016 alleles
Filtering AF
0.000429%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000312%
Overall
0.000684%
10/1,461,782 alleles · very rare
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
- ANKRD16
- Protein
- p.Ala323=
- Coding
- c.969C>G
- MANE Select
- NM_019046
- Type
- single nucleotide variant
- Location
- chr10:5878247 (GRCh38)
- Gene constraint
- LOEUF 1.356 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.32
Similar variants
- ANKRD16 p.Ala208Thr Uncertain significance ★ ⚠ same type
- ANKRD16 p.Ala21Ser Uncertain significance ★ ⚠ same type
- ANKRD16 p.Ala234Ser Uncertain significance ★ ⚠ same type
- ANKRD16 p.Ala240Thr Uncertain significance ★ ⚠ same type
- ANKRD16 p.Ala359Thr Uncertain significance ★ ⚠ same type
- ANKRD16 p.Ala36Thr Uncertain significance ★ ⚠ same type
- ANKRD16 p.Arg146Gln Uncertain significance ★ ⚠ same type
- ANKRD16 p.Arg20Leu 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/ankrd16-p-ala323 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown