Q63H (p.Gln63His) variant of SOS2 (Son of sevenless homolog 2)
Q63H (p.Gln63His) 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 Noonan syndrome 9; not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- rs771269309
- ClinGen CA7177596
- ClinVar RCV001174628
- ClinVar RCV002411671
- Uncertain significance
- Noonan syndrome 9; not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.49
- MetaLR 0.45
- MetaSVM -0.52
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9; not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)