H63Y (p.His63Tyr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
H63Y (p.His63Tyr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- ExAC rs756043181
- gnomAD rs756043181
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.80
- PolyPhen-2 0.21
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available