S104C (p.Ser104Cys) variant of SOS1 (Son of sevenless homolog 1)
S104C (p.Ser104Cys) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S104C (p.Ser104Cys) variant details
- p.Ser104Cys
- ExAC rs752017140
- TOPMed rs752017140
- gnomAD rs752017140
- Uncertain significance
- Noonan syndrome 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.59
- SIFT 0.05
- ClinVar: Uncertain significance (Noonan syndrome 4; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available