K570N (p.Lys570Asn) variant of TERT (Telomerase reverse transcriptase)
K570N (p.Lys570Asn) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely risk allele in the context of Pulmonary fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
K570N (p.Lys570Asn) variant details
- p.Lys570Asn
- rs1554041299
- ClinVar RCV000032369
- UniProt VAR 062536
- Ensembl rs1554041299
- Likely risk allele
- Pulmonary fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.94
- MetaLR 0.80
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely risk allele (Pulmonary fibrosis)
- EBI: Pathogenic (in AA)
- UniProt: Pathogenic (in AA)
- Structural context available
- Cited in: Functional characterization of natural telomerase mutations found in patients with hematologic disorders. (PMID 16990594)
- Cited in: Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. (PMID 19760749)