M269T (p.Met269Thr) variant of SOS1 (Son of sevenless homolog 1)
M269T (p.Met269Thr) 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 Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M269T (p.Met269Thr) variant details
- p.Met269Thr
- rs137852813
- ClinGen CA235344
- ClinVar RCV000157690
- ClinVar RCV000208414
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.90
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PMID 19953625)
- Cited in: Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. (PMID 20683980)