H69Y (p.His69Tyr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
H69Y (p.His69Tyr) 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.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- gnomAD rs2034116714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 22.90
- PolyPhen-2 0.33
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available