A45V (p.Ala45Val) variant of DNMT3A (Q9Y6K1)
A45V (p.Ala45Val) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- cosmic curated COSV53054
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.54
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available