S16N (p.Ser16Asn) variant of TERT (Telomerase reverse transcriptase)
S16N (p.Ser16Asn) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- rs2126692712
- ClinGen CA359059779
- ClinVar RCV003789298
- Ensembl rs2126692712
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.25
- MetaLR 0.60
- MetaSVM 0.16
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.21
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)