V131L (p.Val131Leu) variant of SOS2 (Son of sevenless homolog 2)
V131L (p.Val131Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V131L (p.Val131Leu) variant details
- p.Val131Leu
- gnomAD rs1401319142
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- MetaLR 0.34
- MetaSVM -0.34
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available