V133I (p.Val133Ile) variant of SOS2 (Son of sevenless homolog 2)
V133I (p.Val133Ile) 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.
V133I (p.Val133Ile) variant details
- p.Val133Ile
- gnomAD rs1464665792
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.41
- MetaLR 0.44
- MetaSVM -0.06
- CADD 23.40
- PolyPhen-2 0.70
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available