K5N (p.Lys5Asn) variant of HNF4A (P41235)
K5N (p.Lys5Asn) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- gnomAD 20-44401387-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available