A58S (p.Ala58Ser) variant of HNF4A (P41235)
A58S (p.Ala58Ser) in HNF4A (P41235) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A58S (p.Ala58Ser) variant details
- p.Ala58Ser
- ESP rs376906221
- ExAC rs376906221
- TOPMed rs376906221
- gnomAD rs376906221
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.23
- MetaLR 0.53
- MetaSVM -0.17
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available