F78C (p.Phe78Cys) variant of SOS1 (Son of sevenless homolog 1)
F78C (p.Phe78Cys) 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 SOS1-related disorder; Ventricular tachycardia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F78C (p.Phe78Cys) variant details
- p.Phe78Cys
- rs201352584
- ClinGen CA297244
- cosmic curated COSV10593
- ClinVar RCV000460292
- Conflicting interpretations
- SOS1-related disorder; Ventricular tachycardia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.86
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (SOS1-related disorder; Ventricular tachycardia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)