T58I (p.Thr58Ile) variant of KRAS (GTPase KRas)
T58I (p.Thr58Ile) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs104894364
- ClinGen CA256480
- NCI-TCGA Cosmic COSV5552
- cosmic curated COSV55527
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.96
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -1.01
- Cited in: Germline KRAS mutations cause Noonan syndrome. (PMID 16474405)
- Cited in: Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. (PMID 19396835)