P60L (p.Pro60Leu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P60L (p.Pro60Leu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- ExAC rs778234238
- TOPMed rs778234238
- gnomAD rs778234238
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 28.40
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available