Q2K (p.Gln2Lys) variant of SOS1 (Son of sevenless homolog 1)
Q2K (p.Gln2Lys) 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 RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q2K (p.Gln2Lys) variant details
- p.Gln2Lys
- rs587781174
- ClinGen CA346374816
- ClinVar RCV002254876
- ClinVar RCV003539415
- Uncertain significance
- RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; Noonan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)