V74L (p.Val74Leu) variant of SOS1 (Son of sevenless homolog 1)
V74L (p.Val74Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- gnomAD rs1292587800
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.63
- AlphaMissense 0.22
- MetaLR 0.73
- MetaSVM 0.45
- CADD 25.10
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available