R18S (p.Arg18Ser) variant of ASXL1 (Polycomb group protein ASXL1)
R18S (p.Arg18Ser) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD rs1302023145
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.20
- CADD 24.70
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available