L55V (p.Leu55Val) variant of SOS2 (Son of sevenless homolog 2)
L55V (p.Leu55Val) in SOS2 (Son of sevenless homolog 2) is a missense change. 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.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- Ensembl rs1886595109
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.74
- MetaLR 0.67
- MetaSVM 0.40
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available