G55D (p.Gly55Asp) variant of HNF4A (P41235)
G55D (p.Gly55Asp) 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.
G55D (p.Gly55Asp) variant details
- p.Gly55Asp
- TOPMed rs2063496148
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- MetaLR 0.80
- MetaSVM 0.73
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available