E50K (p.Glu50Lys) variant of SOS1 (Son of sevenless homolog 1)
E50K (p.Glu50Lys) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs2148140584
- ClinGen CA346374238
- ClinVar RCV002014303
- Ensembl rs2148140584
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.43
- MetaLR 0.55
- MetaSVM -0.09
- PolyPhen-2 0.69
- SIFT 0.36
- EVE 0.17
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available