E116K (p.Glu116Lys) variant of SOS1 (Son of sevenless homolog 1)
E116K (p.Glu116Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- rs747505741
- ClinVar RCV004701957
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.84
- MetaLR 0.64
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available