K163E (p.Lys163Glu) variant of SOS1 (Son of sevenless homolog 1)
K163E (p.Lys163Glu) 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 Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
K163E (p.Lys163Glu) variant details
- p.Lys163Glu
- rs886042206
- ClinGen CA10603936
- ClinVar RCV000329053
- ClinVar RCV000764408
- Uncertain significance
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.34
- MetaLR 0.31
- MetaSVM -0.59
- PolyPhen-2 0.95
- SIFT 0.23
- EVE 0.37
- ClinVar: Uncertain significance (Noonan syndrome 4; Fibromatosis, gingival, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)