S75F (p.Ser75Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S75F (p.Ser75Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- gnomAD rs1425769671
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available