Q40K (p.Gln40Lys) variant of TERT (Telomerase reverse transcriptase)
Q40K (p.Gln40Lys) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- Ensembl rs2126691976
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.25
- MetaLR 0.69
- MetaSVM 0.38
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available