A13P (p.Ala13Pro) variant of HNF4A (P41235)
A13P (p.Ala13Pro) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- rs1329019664
- gnomAD 20-44355832-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 23.90
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available