L105I (p.Leu105Ile) variant of SOS1 (Son of sevenless homolog 1)
L105I (p.Leu105Ile) 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.
L105I (p.Leu105Ile) variant details
- p.Leu105Ile
- TOPMed rs1230538285
- gnomAD rs1230538285
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.51
- AlphaMissense 0.71
- MetaLR 0.75
- MetaSVM 0.54
- CADD 24.40
- PolyPhen-2 0.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available