Q36R (p.Gln36Arg) variant of ASXL1 (Polycomb group protein ASXL1)
Q36R (p.Gln36Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- Ensembl rs2122811319
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.15
- CADD 26.60
- PolyPhen-2 0.79
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available