G32R (p.Gly32Arg) variant of SOS1 (Son of sevenless homolog 1)
G32R (p.Gly32Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs764501046
- ClinGen CA1624858
- ClinVar RCV003540349
- ClinVar RCV004992671
- Conflicting interpretations
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.22
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available