L48P (p.Leu48Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
L48P (p.Leu48Pro) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- Ensembl rs894083743
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available