R28G (p.Arg28Gly) variant of SOS2 (Son of sevenless homolog 2)
R28G (p.Arg28Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs2503346594
- ClinGen CA389657455
- ClinVar RCV004517244
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.51
- MetaLR 0.43
- MetaSVM -0.12
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available