L134V (p.Leu134Val) variant of ABCG2 (Q9UNQ0)
L134V (p.Leu134Val) 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 0.36 / 1. The record also includes population frequency data and structural context.
L134V (p.Leu134Val) variant details
- p.Leu134Val
- NCI-TCGA Cosmic COSV9941
- cosmic curated COSV99419
- TOPMed rs1724846906
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.34
- CADD 19.90
- PolyPhen-2 0.91
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available