R73C (p.Arg73Cys) variant of SOS1 (Son of sevenless homolog 1)
R73C (p.Arg73Cys) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- cosmic curated COSV10972
- ExAC rs772133124
- TOPMed rs772133124
- gnomAD rs772133124
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (RASopathy)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available