D685N (p.Asp685Asn) variant of TERT (Telomerase reverse transcriptase)
D685N (p.Asp685Asn) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D685N (p.Asp685Asn) variant details
- p.Asp685Asn
- rs1579575848
- ClinGen CA359080310
- cosmic curated COSV10511
- ClinVar RCV002535497
- Likely pathogenic
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.46
- MetaLR 0.95
- MetaSVM 1.19
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)