P51L (p.Pro51Leu) variant of HNF4A (P41235)
P51L (p.Pro51Leu) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- rs768327289
- gnomAD 20-44402564-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 1.30
- Most common in the East Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available