N38D (p.Asn38Asp) variant of HNF4A (P41235)
N38D (p.Asn38Asp) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- ExAC rs746544497
- TOPMed rs746544497
- gnomAD rs746544497
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- MetaLR 0.60
- MetaSVM -0.15
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available