D3V (p.Asp3Val) variant of ASXL1 (Polycomb group protein ASXL1)
D3V (p.Asp3Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- rs1174053423
- gnomAD 20-32359784-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- MetaLR 0.03
- MetaSVM -0.99
- CADD 14.90
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available