R41C (p.Arg41Cys) variant of TERT (Telomerase reverse transcriptase)
R41C (p.Arg41Cys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs2126691944
- ClinGen CA359059198
- ClinVar RCV003790444
- ClinVar RCV005752291
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.41
- MetaLR 0.78
- MetaSVM 0.05
- CADD 24.30
- PolyPhen-2 0.48
- SIFT 0.02
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)