T58I (p.Thr58Ile) variant of HRAS (GTPase HRas)
T58I (p.Thr58Ile) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs121917758
- ClinGen CA341206
- cosmic curated COSV54240
- ClinVar RCV000013444
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.78
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.90
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? (PMID 18247425)
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)