W13C (p.Trp13Cys) variant of ASXL1 (Polycomb group protein ASXL1)
W13C (p.Trp13Cys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- gnomAD 20-32358814-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available