H50R (p.His50Arg) variant of ABCC2 (Q92887)
H50R (p.His50Arg) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H50R (p.His50Arg) variant details
- p.His50Arg
- gnomAD 10-99784723-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available