P17R (p.Pro17Arg) variant of SOS2 (Son of sevenless homolog 2)
P17R (p.Pro17Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- TOPMed rs1015229594
- gnomAD rs1015229594
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.16
- MetaLR 0.34
- MetaSVM -0.78
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available