I110V (p.Ile110Val) variant of SOS1 (Son of sevenless homolog 1)
I110V (p.Ile110Val) 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; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
I110V (p.Ile110Val) variant details
- p.Ile110Val
- rs1276127499
- ClinGen CA346373813
- ClinVar RCV001508986
- ClinVar RCV002568001
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.28
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.40
- SIFT 0.36
- EVE 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available