E27A (p.Glu27Ala) variant of HNF4A (P41235)
E27A (p.Glu27Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- cosmic curated COSV57379
- ExAC rs781738246
- gnomAD rs781738246
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.62
- MetaLR 0.83
- MetaSVM 0.53
- CADD 28.60
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available