K902N (p.Lys902Asn) variant of TERT (Telomerase reverse transcriptase)
K902N (p.Lys902Asn) 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 0.95 / 1. The record also includes published literature and structural context.
K902N (p.Lys902Asn) variant details
- p.Lys902Asn
- rs121918665
- ClinGen CA122663
- ClinVar RCV000013572
- ClinVar RCV000032389
- Pathogenic
- Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Dyskeratosis congenita, autosomal dominant 2)
- EBI: Pathogenic (in DKCA2)
- UniProt: Pathogenic (in DKCA2)
- Structural context available
- Cited in: Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis… (PMID 16247010)
- Cited in: Functional characterization of natural telomerase mutations found in patients with hematologic disorders. (PMID 16990594)