Y46C (p.Tyr46Cys) variant of SOS2 (Son of sevenless homolog 2)
Y46C (p.Tyr46Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- rs1162838729
- ClinGen CA7177603
- ClinVar RCV003009152
- TOPMed rs1162838729
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- MetaLR 0.36
- MetaSVM -0.54
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)