S12C (p.Ser12Cys) variant of SOS1 (Son of sevenless homolog 1)
S12C (p.Ser12Cys) 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; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- rs751776207
- ClinGen CA346374720
- ClinVar RCV001327635
- ClinVar RCV005601755
- Uncertain significance
- RASopathy; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy; Noonan syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)