N30H (p.Asn30His) variant of HNF4A (P41235)
N30H (p.Asn30His) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N30H (p.Asn30His) variant details
- p.Asn30His
- gnomAD rs1187579643
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.39
- MetaLR 0.75
- MetaSVM -0.10
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available