L128V (p.Leu128Val) variant of SOS2 (Son of sevenless homolog 2)
L128V (p.Leu128Val) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L128V (p.Leu128Val) variant details
- p.Leu128Val
- ExAC rs775777617
- gnomAD rs775777617
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -1.01
- CADD 14.10
- PolyPhen-2 0.12
- SIFT 0.52
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available