R331S (p.Arg331Ser) variant of HNF4A (P41235)
R331S (p.Arg331Ser) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R331S (p.Arg331Ser) variant details
- p.Arg331Ser
- rs193922479
- ClinGen CA409108243
- cosmic curated COSV10029
- ClinVar RCV000711965
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.74
- CADD 23.70
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available