L140V (p.Leu140Val) variant of ABCG2 (Q9UNQ0)
L140V (p.Leu140Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
L140V (p.Leu140Val) variant details
- p.Leu140Val
- rs1265942342
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52943
- TOPMed rs1265942342
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.23
- CADD 20.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available