E39K (p.Glu39Lys) variant of SOS1 (Son of sevenless homolog 1)
E39K (p.Glu39Lys) 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 not provided; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs375934353
- ClinGen CA1624856
- cosmic curated COSV67673
- ClinVar RCV000681137
- Conflicting interpretations
- not provided; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Conflicting classifications of pathogenicity (not provided; RASopathy; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)