S41C (p.Ser41Cys) variant of HNF4A (P41235)
S41C (p.Ser41Cys) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S41C (p.Ser41Cys) variant details
- p.Ser41Cys
- rs2515643997
- ClinGen CA409103665
- ClinVar RCV003834006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.41
- CADD 19.50
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available