L6P (p.Leu6Pro) variant of SOS1 (Son of sevenless homolog 1)
L6P (p.Leu6Pro) 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 RASopathy; not specified; Cardiovascular phenotype. 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.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs749077460
- ClinGen CA1624903
- ClinVar RCV002971331
- ClinVar RCV003274107
- Conflicting interpretations
- RASopathy; not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.30
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; not specified; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 9.5e-05)
- Structural context available