R137K (p.Arg137Lys) variant of ABCG2 (Q9UNQ0)
R137K (p.Arg137Lys) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R137K (p.Arg137Lys) variant details
- p.Arg137Lys
- cosmic curated COSV52949
- ExAC rs748501399
- gnomAD rs748501399
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.76
- CADD 24.40
- PolyPhen-2 0.56
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available