A22V (p.Ala22Val) variant of ABCG2 (Q9UNQ0)
A22V (p.Ala22Val) in ABCG2 (Q9UNQ0) 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 0.16 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs139903768
- ESP rs139903768
- ExAC rs139903768
- TOPMed rs139903768
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.22
- CADD 1.99
- PolyPhen-2 0.04
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available