A716V (p.Ala716Val) variant of TERT (Telomerase reverse transcriptase)
A716V (p.Ala716Val) 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 not provided; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. 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.
A716V (p.Ala716Val) variant details
- p.Ala716Val
- rs199422298
- ClinGen CA343437
- cosmic curated COSV57213
- ClinVar RCV000032376
- Pathogenic/Likely pathogenic
- not provided; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.89
- AlphaMissense 0.84
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pulmonary fibrosis and/or bone marrow failure, Tel)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)