E95K (p.Glu95Lys) variant of SOS1 (Son of sevenless homolog 1)
E95K (p.Glu95Lys) 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 0.70 / 1. The record also includes structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs1558493384
- ClinGen CA346373912
- ClinVar RCV000702580
- Ensembl rs1558493384
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.82
- MetaLR 0.77
- MetaSVM 0.62
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.48
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available