E13G (p.Glu13Gly) variant of SOS1 (Son of sevenless homolog 1)
E13G (p.Glu13Gly) 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; not provided; Fibromatosis, gingival, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs2148243276
- ClinGen CA346374704
- ClinVar RCV001543121
- ClinVar RCV002032544
- Uncertain significance
- RASopathy; not provided; Fibromatosis, gingival, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy; not provided; Fibromatosis, gingival, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)