A18T (p.Ala18Thr) variant of HNF4A (P41235)
A18T (p.Ala18Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- ExAC rs750703108
- TOPMed rs750703108
- gnomAD rs750703108
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.30
- MetaLR 0.68
- MetaSVM -0.04
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.48
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available