A9V (p.Ala9Val) variant of TERT (Telomerase reverse transcriptase)
A9V (p.Ala9Val) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs2126692963
- ClinGen CA359059921
- ClinVar RCV003798462
- Ensembl rs2126692963
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.37
- MetaLR 0.82
- MetaSVM 0.37
- CADD 23.20
- PolyPhen-2 0.75
- SIFT 0.00
- 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)