P21L (p.Pro21Leu) variant of HNF4A (P41235)
P21L (p.Pro21Leu) 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, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 20-44355824-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available