K5E (p.Lys5Glu) variant of HNF4A (P41235)
K5E (p.Lys5Glu) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- TOPMed rs1386633021
- gnomAD rs1386633021
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.39
- MetaLR 0.53
- MetaSVM -0.19
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available