E14K (p.Glu14Lys) variant of SOS2 (Son of sevenless homolog 2)
E14K (p.Glu14Lys) 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 0.61 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs2503346981
- ClinGen CA389657556
- ClinVar RCV002323328
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.57
- MetaLR 0.58
- MetaSVM 0.22
- CADD 23.90
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available