DYTN p.Ala110=
c.330G>A · rs575918931 · VCV2651843
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.181%, 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 -3.1 | GERP -3.6 |
| Overall | ||
| CADD | 2.505 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.181%
Middle Eastern · 11/6,062 alleles
Filtering AF
0.102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0787%
Overall
0.0144%
233/1,613,706 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.181% | 551 |
| South Asian | 0.0868% | 1,153 |
| European (non-Finnish) | 0.0109% | 9,146 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,414 |
| Admixed American | 0.00667% | 14,999 |
| Finnishnot grpmax-eligible | 0.00625% | 15,992 |
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
- DYTN
- Protein
- p.Ala110=
- Coding
- c.330G>A
- MANE Select
- NM_001093730
- dbSNP
- rs575918931
- Type
- single nucleotide variant
- Location
- chr2:206705840 (GRCh38)
- Gene constraint
- LOEUF 1.328 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.89
Similar variants
- DYTN p.Ala112Thr Uncertain significance ★ ⚠ same type
- DYTN p.Ala178Val Uncertain significance ★ ⚠ same type
- DYTN p.Ala324Val Uncertain significance ★ ⚠ same type
- DYTN p.Ala449Ser Uncertain significance ★ ⚠ same type
- DYTN p.Ala465Thr Uncertain significance ★ ⚠ same type
- DYTN p.Ala52Pro Uncertain significance ★ ⚠ same type
- DYTN p.Ala564Thr Uncertain significance ★ ⚠ same type
- DYTN p.Ala567Thr 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/dytn-p-ala110 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown