E32K (p.Glu32Lys) variant of SOS2 (Son of sevenless homolog 2)
E32K (p.Glu32Lys) 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 0.39 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs1461064079
- ClinGen CA389651564
- ClinVar RCV002374132
- gnomAD rs1461064079
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.44
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available