P908L (p.Pro908Leu) variant of TERT (Telomerase reverse transcriptase)
P908L (p.Pro908Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dyskeratosis congenita, autosomal dominant 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
P908L (p.Pro908Leu) variant details
- p.Pro908Leu
- rs2126595178
- ClinGen CA359072002
- ClinVar RCV002236397
- Ensembl rs2126595178
- Pathogenic
- Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic (Dyskeratosis congenita, autosomal dominant 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)