K18M (p.Lys18Met) variant of SOS1 (Son of sevenless homolog 1)
K18M (p.Lys18Met) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K18M (p.Lys18Met) variant details
- p.Lys18Met
- ExAC rs777196517
- gnomAD rs777196517
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.68
- CADD 27.70
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available