D26G (p.Asp26Gly) variant of ASXL1 (Polycomb group protein ASXL1)
D26G (p.Asp26Gly) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D26G (p.Asp26Gly) variant details
- p.Asp26Gly
- gnomAD 20-32366403-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.29
- MetaLR 0.11
- MetaSVM -1.04
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available