A17S (p.Ala17Ser) variant of ASXL1 (Polycomb group protein ASXL1)
A17S (p.Ala17Ser) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD 20-32358824-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.75
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available