L3P (p.Leu3Pro) variant of HNF4A (P41235)
L3P (p.Leu3Pro) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- TOPMed rs1198255545
- gnomAD rs1198255545
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.71
- MetaLR 0.83
- MetaSVM 0.83
- CADD 28.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available