T266K (p.Thr266Lys) variant of SOS1 (Son of sevenless homolog 1)
T266K (p.Thr266Lys) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic short statue; RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
T266K (p.Thr266Lys) variant details
- p.Thr266Lys
- rs137852812
- ClinGen CA256578
- ClinVar RCV000013729
- ClinVar RCV000038570
- Pathogenic
- Monogenic short statue; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.81
- MetaLR 0.76
- MetaSVM 0.56
- PolyPhen-2 0.43
- SIFT 0.01
- EVE 0.50
- ClinVar: Pathogenic (Monogenic short statue; RASopathy; Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PMID 17143285)
- Cited in: Clinical and molecular characterization of 40 patients with Noonan syndrome. (PMID 18678287)