K728T (p.Lys728Thr) variant of SOS1 (Son of sevenless homolog 1)
K728T (p.Lys728Thr) 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 Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
K728T (p.Lys728Thr) variant details
- p.Lys728Thr
- rs397517156
- ClinGen CA346364450
- ClinVar RCV001261110
- ClinVar RCV001880003
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.99
- MetaLR 0.20
- MetaSVM -0.72
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)