D39G (p.Asp39Gly) variant of HNF4A (P41235)
D39G (p.Asp39Gly) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D39G (p.Asp39Gly) variant details
- p.Asp39Gly
- gnomAD rs1462526900
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.48
- MetaLR 0.58
- MetaSVM -0.10
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available