L59I (p.Leu59Ile) variant of SOS1 (Son of sevenless homolog 1)
L59I (p.Leu59Ile) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L59I (p.Leu59Ile) variant details
- p.Leu59Ile
- TOPMed rs1442738935
- gnomAD rs1442738935
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.69
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available