P35S (p.Pro35Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P35S (p.Pro35Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- Ensembl rs1263893732
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 24.60
- PolyPhen-2 0.49
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available