I130V (p.Ile130Val) variant of SOS2 (Son of sevenless homolog 2)
I130V (p.Ile130Val) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
I130V (p.Ile130Val) variant details
- p.Ile130Val
- ExAC rs746148215
- TOPMed rs746148215
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.84
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available