A79V (p.Ala79Val) variant of DNMT3A (Q9Y6K1)
A79V (p.Ala79Val) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- Ensembl rs2149379477
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.36
- MetaLR 0.76
- MetaSVM 0.60
- CADD 23.70
- PolyPhen-2 0.74
- SIFT 0.25
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available