V107I (p.Val107Ile) variant of SOS1 (Son of sevenless homolog 1)
V107I (p.Val107Ile) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
V107I (p.Val107Ile) variant details
- p.Val107Ile
- rs1235907251
- ClinGen CA346373834
- ClinVar RCV002322943
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.56
- MetaLR 0.45
- MetaSVM -0.29
- PolyPhen-2 0.27
- SIFT 0.24
- EVE 0.55
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available