E108V (p.Glu108Val) variant of SOS1 (Son of sevenless homolog 1)
E108V (p.Glu108Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
E108V (p.Glu108Val) variant details
- p.Glu108Val
- rs886041923
- ClinGen CA346373825
- ClinVar RCV001311921
- Ensembl rs886041923
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.93
- MetaLR 0.57
- MetaSVM 0.20
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.41
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in NS4)
- UniProt: Likely pathogenic (in NS4)
- Structural context available