G76D (p.Gly76Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G76D (p.Gly76Asp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in RCAD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- TOPMed rs972535515
- Uncertain significance
- in RCAD
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.42
- EBI: uncertain significance (in RCAD)
- UniProt: Uncertain significance (in RCAD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available