P51T (p.Pro51Thr) variant of HNF4A (P41235)
P51T (p.Pro51Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P51T (p.Pro51Thr) variant details
- p.Pro51Thr
- rs2146345596
- gnomAD 20-44402590-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 1.45
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available