I48T (p.Ile48Thr) variant of SOS2 (Son of sevenless homolog 2)
I48T (p.Ile48Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- 1000Genomes rs556194352
- TOPMed rs556194352
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.85
- MetaLR 0.60
- MetaSVM 0.30
- CADD 24.10
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available