K84E (p.Lys84Glu) variant of SOS1 (Son of sevenless homolog 1)
K84E (p.Lys84Glu) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K84E (p.Lys84Glu) variant details
- p.Lys84Glu
- TOPMed rs1319777416
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.65
- CADD 23.10
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available