V24F (p.Val24Phe) variant of SOS2 (Son of sevenless homolog 2)
V24F (p.Val24Phe) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- rs2503346760
- ClinGen CA389657476
- ClinVar RCV002367364
- ClinVar RCV004774673
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- MetaLR 0.63
- MetaSVM 0.40
- CADD 25.10
- PolyPhen-2 0.47
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available