A46S (p.Ala46Ser) variant of TERT (Telomerase reverse transcriptase)
A46S (p.Ala46Ser) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs1579599228
- ClinGen CA359059112
- ClinVar RCV002258324
- ClinVar RCV002557667
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- MetaLR 0.62
- MetaSVM -0.40
- CADD 17.00
- PolyPhen-2 0.29
- SIFT 0.22
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)