I62V (p.Ile62Val) variant of HNF4A (P41235)
I62V (p.Ile62Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- TOPMed rs2063496649
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- MetaLR 0.83
- MetaSVM 0.88
- CADD 23.90
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available