R97P (p.Arg97Pro) variant of SOS2 (Son of sevenless homolog 2)
R97P (p.Arg97Pro) 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 0.59 / 1. The record also includes population frequency data and structural context.
R97P (p.Arg97Pro) variant details
- p.Arg97Pro
- ExAC rs777574895
- TOPMed rs777574895
- gnomAD rs777574895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.53
- MetaLR 0.37
- MetaSVM -0.36
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available