D14N (p.Asp14Asn) variant of HNF4A (P41235)
D14N (p.Asp14Asn) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- ExAC rs761696474
- gnomAD rs761696474
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.26
- MetaLR 0.65
- MetaSVM -0.68
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.41
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available