D85H (p.Asp85His) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D85H (p.Asp85His) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D85H (p.Asp85His) variant details
- p.Asp85His
- ExAC rs772653373
- gnomAD rs772653373
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 29.40
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available