S12F (p.Ser12Phe) variant of TERT (Telomerase reverse transcriptase)
S12F (p.Ser12Phe) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- Ensembl rs2126692854
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- MetaLR 0.79
- MetaSVM 0.13
- CADD 19.90
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available