S66G (p.Ser66Gly) variant of SOS1 (Son of sevenless homolog 1)
S66G (p.Ser66Gly) 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 Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S66G (p.Ser66Gly) variant details
- p.Ser66Gly
- rs2465395173
- ClinGen CA346374127
- ClinVar RCV003333637
- Uncertain significance
- Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)