E13K (p.Glu13Lys) variant of SOS2 (Son of sevenless homolog 2)
E13K (p.Glu13Lys) 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.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs1887535959
- ClinGen CA389657569
- cosmic curated COSV10724
- ClinVar RCV004517239
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- MetaLR 0.50
- MetaSVM -0.10
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available