S12G (p.Ser12Gly) variant of SOS1 (Son of sevenless homolog 1)
S12G (p.Ser12Gly) 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 not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- rs751776207
- ClinGen CA1624898
- ClinVar RCV003068725
- ClinVar RCV003491220
- Uncertain significance
- not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available