M10T (p.Met10Thr) variant of HNF4A (P41235)
M10T (p.Met10Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M10T (p.Met10Thr) variant details
- p.Met10Thr
- Ensembl rs2063406610
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.82
- MetaLR 0.87
- MetaSVM 0.94
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available