M12T (p.Met12Thr) variant of HNF4A (P41235)
M12T (p.Met12Thr) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- gnomAD rs1316900220
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.62
- MetaLR 0.80
- MetaSVM -0.23
- CADD 23.00
- PolyPhen-2 0.25
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available