Q47H (p.Gln47His) variant of ABCC2 (Q92887)
Q47H (p.Gln47His) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- gnomAD 10-99784715-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available