N30K (p.Asn30Lys) variant of HNF4A (P41235)
N30K (p.Asn30Lys) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- gnomAD 20-44355819-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available