V24L (p.Val24Leu) variant of SOS1 (Son of sevenless homolog 1)
V24L (p.Val24Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- rs1673824599
- ClinGen CA346374579
- ClinVar RCV003283414
- ClinVar RCV003655419
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.34
- CADD 22.50
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available