S7L (p.Ser7Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S7L (p.Ser7Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- Ensembl rs2034126576
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available