T35M (p.Thr35Met) variant of HNF4A (P41235)
T35M (p.Thr35Met) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- cosmic curated COSV10441
- ExAC rs756553207
- TOPMed rs756553207
- gnomAD rs756553207
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.31
- MetaLR 0.72
- MetaSVM 0.00
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available