A13E (p.Ala13Glu) variant of HNF4A (P41235)
A13E (p.Ala13Glu) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- rs1051122101
- gnomAD 20-44355821-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available