D14H (p.Asp14His) variant of HNF4A (P41235)
D14H (p.Asp14His) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D14H (p.Asp14His) variant details
- p.Asp14His
- gnomAD 20-44401412-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.64
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available