A17V (p.Ala17Val) variant of DNMT1 (P26358)
A17V (p.Ala17Val) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs768745074
- TOPMed rs768745074
- gnomAD rs768745074
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.13
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available