K18R (p.Lys18Arg) variant of SOS1 (Son of sevenless homolog 1)
K18R (p.Lys18Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- ExAC rs777196517
- gnomAD rs777196517
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available