R97G (p.Arg97Gly) variant of SOS1 (Son of sevenless homolog 1)
R97G (p.Arg97Gly) 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 provided; Cardiovascular phenotype. 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.
R97G (p.Arg97Gly) variant details
- p.Arg97Gly
- rs2465361297
- ClinGen CA346373897
- ClinVar RCV002438010
- ClinVar RCV002473386
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available