A716T (p.Ala716Thr) variant of TERT (Telomerase reverse transcriptase)
A716T (p.Ala716Thr) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A716T (p.Ala716Thr) variant details
- p.Ala716Thr
- rs387907249
- ClinGen CA129984
- cosmic curated COSV57221
- ClinVar RCV000030629
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. (PMID 21436073)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)