S88L (p.Ser88Leu) variant of ABCG2 (Q9UNQ0)
S88L (p.Ser88Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
S88L (p.Ser88Leu) variant details
- p.Ser88Leu
- rs200415908
- cosmic curated COSV52943
- ESP rs200415908
- ExAC rs200415908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available