R97Q (p.Arg97Gln) variant of SOS2 (Son of sevenless homolog 2)
R97Q (p.Arg97Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R97Q (p.Arg97Gln) variant details
- p.Arg97Gln
- rs777574895
- ClinGen CA389650038
- NCI-TCGA Cosmic COSV5357
- cosmic curated COSV53572
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.66
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)