A50P (p.Ala50Pro) variant of HNF4A (P41235)
A50P (p.Ala50Pro) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- TOPMed rs1223493898
- gnomAD rs1223493898
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.23
- MetaLR 0.75
- MetaSVM 0.03
- CADD 15.90
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available