E9K (p.Glu9Lys) variant of SOS1 (Son of sevenless homolog 1)
E9K (p.Glu9Lys) 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 not provided; Fibromatosis, gingival, 1; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1347187972
- ClinGen CA346374765
- ClinVar RCV000680743
- ClinVar RCV002493123
- Uncertain significance
- not provided; Fibromatosis, gingival, 1; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Fibromatosis, gingival, 1; Noonan syndrome 4)
- 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)