A17G (p.Ala17Gly) variant of ASXL1 (Polycomb group protein ASXL1)
A17G (p.Ala17Gly) in ASXL1 (Polycomb group protein ASXL1) 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.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- Ensembl rs2122755047
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.14
- CADD 24.70
- PolyPhen-2 0.89
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 4.2e-05)
- Structural context available