L22V (p.Leu22Val) variant of SOS1 (Son of sevenless homolog 1)
L22V (p.Leu22Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- rs773916713
- ClinGen CA1624890
- cosmic curated COSV67674
- ClinVar RCV003655455
- Conflicting interpretations
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.26
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00039)
- Structural context available