A168T (p.Ala168Thr) variant of SOS2 (Son of sevenless homolog 2)
A168T (p.Ala168Thr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A168T (p.Ala168Thr) variant details
- p.Ala168Thr
- rs2139778845
- ClinGen CA389649402
- ClinVar RCV001360043
- Ensembl rs2139778845
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- MetaLR 0.75
- MetaSVM 0.65
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.41
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)