F10V (p.Phe10Val) variant of SOS1 (Son of sevenless homolog 1)
F10V (p.Phe10Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F10V (p.Phe10Val) variant details
- p.Phe10Val
- rs2148243308
- ClinGen CA346374749
- ClinVar RCV002005559
- Ensembl rs2148243308
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.56
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available