A3S (p.Ala3Ser) variant of SOS1 (Son of sevenless homolog 1)
A3S (p.Ala3Ser) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs533757634
- ClinGen CA1624907
- ClinVar RCV001913952
- ClinVar RCV002423053
- Conflicting interpretations
- Cardiovascular phenotype; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- CADD 21.30
- PolyPhen-2 0.17
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)