R30C (p.Arg30Cys) variant of TERT (Telomerase reverse transcriptase)
R30C (p.Arg30Cys) 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 not provided; not specified. 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.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs2126692283
- ClinGen CA359059456
- ClinVar RCV001822619
- ClinVar RCV004779144
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.67
- MetaLR 0.70
- MetaSVM 0.56
- CADD 25.00
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available