V117G (p.Val117Gly) variant of SOS1 (Son of sevenless homolog 1)
V117G (p.Val117Gly) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V117G (p.Val117Gly) variant details
- p.Val117Gly
- rs201085754
- ClinGen CA136140
- ClinVar RCV000038552
- ClinVar RCV000520887
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.73
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available