K9R (p.Lys9Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K9R (p.Lys9Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- TOPMed rs886129274
- gnomAD rs886129274
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.08
- CADD 26.30
- PolyPhen-2 0.78
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available