M12L (p.Met12Leu) variant of HNF4A (P41235)
M12L (p.Met12Leu) 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.
M12L (p.Met12Leu) variant details
- p.Met12Leu
- gnomAD rs1394031320
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.38
- MetaLR 0.75
- MetaSVM -0.33
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available