T58I (p.Thr58Ile) variant of NRAS (GTPase NRas)
T58I (p.Thr58Ile) in NRAS (GTPase NRas) 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 0.85 / 1. The record also includes published literature and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs2101742052
- ClinGen CA341741642
- NCI-TCGA Cosmic COSV5473
- ClinVar RCV001382057
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)