P704S (p.Pro704Ser) variant of TERT (Telomerase reverse transcriptase)
P704S (p.Pro704Ser) 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 TERT-related disorder; Dyskeratosis congenita, autosomal dominant 2; Idiopathic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P704S (p.Pro704Ser) variant details
- p.Pro704Ser
- rs199422297
- ClinGen CA128731
- ClinVar RCV000022786
- ClinVar RCV000032375
- Pathogenic/Likely pathogenic
- TERT-related disorder; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.62
- MetaLR 0.91
- MetaSVM 0.93
- CADD 16.10
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (TERT-related disorder; Dyskeratosis congenita, autosomal dominan)
- EBI: Pathogenic (in DKCB4)
- UniProt: Pathogenic (in DKCB4)
- Population evidence available
- Structural context available
- Cited in: Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase… (PMID 18042801)
- Cited in: Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. (PMID 21602826)