P17A (p.Pro17Ala) variant of SOS2 (Son of sevenless homolog 2)
P17A (p.Pro17Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- ExAC rs750929787
- gnomAD rs750929787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.18
- MetaLR 0.28
- MetaSVM -0.89
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available