P7L (p.Pro7Leu) variant of SOS1 (Son of sevenless homolog 1)
P7L (p.Pro7Leu) 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 specified; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs755983212
- ClinGen CA1624901
- ClinVar RCV002972559
- ClinVar RCV005433944
- Conflicting interpretations
- not specified; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not specified; RASopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available