F62Y (p.Phe62Tyr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
F62Y (p.Phe62Tyr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F62Y (p.Phe62Tyr) variant details
- p.Phe62Tyr
- ExAC rs779843436
- gnomAD rs779843436
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available