P17Q (p.Pro17Gln) variant of SOS2 (Son of sevenless homolog 2)
P17Q (p.Pro17Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- TOPMed rs1015229594
- gnomAD rs1015229594
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available