W46R (p.Trp46Arg) variant of ABCC2 (Q92887)
W46R (p.Trp46Arg) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W46R (p.Trp46Arg) variant details
- p.Trp46Arg
- rs778300481
- ClinGen CA5642786
- ClinVar RCV000596062
- ExAC rs778300481
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 24.90
- PolyPhen-2 0.63
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0016)
- Structural context available