S25R (p.Ser25Arg) variant of ASXL1 (Polycomb group protein ASXL1)
S25R (p.Ser25Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S25R (p.Ser25Arg) variant details
- p.Ser25Arg
- rs555982581
- gnomAD 20-32359314-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 14.10
- SIFT 0.12
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Literature evidence available