R137T (p.Arg137Thr) variant of ABCG2 (Q9UNQ0)
R137T (p.Arg137Thr) 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 0.81 / 1. The record also includes population frequency data and structural context.
R137T (p.Arg137Thr) variant details
- p.Arg137Thr
- rs748501399
- NCI-TCGA Cosmic COSV5294
- ExAC rs748501399
- gnomAD rs748501399
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available