V20V (p.Val20Val) variant of ASXL1 (Polycomb group protein ASXL1)
V20V (p.Val20Val) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs2048204813
- gnomAD 20-32366386-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.32
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available