A22D (p.Ala22Asp) variant of HNF4A (P41235)
A22D (p.Ala22Asp) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- ExAC rs758457314
- TOPMed rs758457314
- gnomAD rs758457314
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.61
- MetaLR 0.80
- MetaSVM 0.68
- CADD 26.40
- PolyPhen-2 0.71
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available