H50H (p.His50His) variant of ABCC2 (Q92887)
H50H (p.His50His) in ABCC2 (Q92887) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H50H (p.His50His) variant details
- p.His50His
- rs200595851
- gnomAD 10-99784724-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0914
- CADD 1.52
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Literature evidence available