H50Y (p.His50Tyr) variant of ABCC2 (Q92887)
H50Y (p.His50Tyr) in ABCC2 (Q92887) 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.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- gnomAD 10-99784722-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 7.32
- PolyPhen-2 0.13
- SIFT 0.57
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available