S104Y (p.Ser104Tyr) variant of SOS1 (Son of sevenless homolog 1)
S104Y (p.Ser104Tyr) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S104Y (p.Ser104Tyr) variant details
- p.Ser104Tyr
- rs752017140
- ClinGen CA346373848
- ClinVar RCV003655828
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- CADD 20.40
- PolyPhen-2 0.28
- SIFT 0.28
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available