S13L (p.Ser13Leu) variant of ABCG2 (Q9UNQ0)
S13L (p.Ser13Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- rs1319203095
- UniProt VAR 067363
- TOPMed rs1319203095
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. (PMID 16702730)