M12V (p.Met12Val) variant of HNF4A (P41235)
M12V (p.Met12Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M12V (p.Met12Val) variant details
- p.Met12Val
- gnomAD 20-44401406-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.46
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available