A45V (p.Ala45Val) variant of TERT (Telomerase reverse transcriptase)
A45V (p.Ala45Val) 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; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs1751292811
- ClinGen CA359059118
- ClinVar RCV003095013
- ClinVar RCV004559471
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- MetaLR 0.62
- MetaSVM -0.26
- CADD 8.32
- PolyPhen-2 0.01
- SIFT 0.28
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)