I152T (p.Ile152Thr) variant of SOS2 (Son of sevenless homolog 2)
I152T (p.Ile152Thr) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I152T (p.Ile152Thr) variant details
- p.Ile152Thr
- gnomAD rs1440645330
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.78
- MetaLR 0.43
- MetaSVM -0.06
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available