F62C (p.Phe62Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
F62C (p.Phe62Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F62C (p.Phe62Cys) variant details
- p.Phe62Cys
- ExAC rs779843436
- gnomAD rs779843436
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available