R15S (p.Arg15Ser) variant of TERT (Telomerase reverse transcriptase)
R15S (p.Arg15Ser) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- Ensembl rs2126692769
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- MetaLR 0.84
- MetaSVM 0.88
- CADD 25.20
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available