S65L (p.Ser65Leu) variant of ABCG2 (Q9UNQ0)
S65L (p.Ser65Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs780975480
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52945
- ExAC rs780975480
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.19
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available