R30S (p.Arg30Ser) variant of TERT (Telomerase reverse transcriptase)
R30S (p.Arg30Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- Ensembl rs2126692283
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.63
- MetaLR 0.78
- MetaSVM 0.67
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available