P37L (p.Pro37Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P37L (p.Pro37Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD rs1242776529
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 28.30
- PolyPhen-2 0.59
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available