Q2L (p.Gln2Leu) variant of SOS1 (Son of sevenless homolog 1)
Q2L (p.Gln2Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- rs886056026
- ClinGen CA10615444
- ClinVar RCV000330632
- ClinVar RCV000389511
- Uncertain significance
- Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)