P31S (p.Pro31Ser) variant of ASXL1 (Polycomb group protein ASXL1)
P31S (p.Pro31Ser) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1178102908
- gnomAD rs1178102908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- MetaLR 0.31
- MetaSVM -0.56
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available