I686M (p.Ile686Met) variant of TERT (Telomerase reverse transcriptase)
I686M (p.Ile686Met) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
I686M (p.Ile686Met) variant details
- p.Ile686Met
- rs745590324
- ClinGen CA359080298
- ClinVar RCV000500038
- ExAC rs745590324
- Likely pathogenic
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.26
- MetaLR 0.89
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Dyskeratosis congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)