G42V (p.Gly42Val) variant of TERT (Telomerase reverse transcriptase)
G42V (p.Gly42Val) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- Ensembl rs2126691890
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.63
- MetaLR 0.94
- MetaSVM 1.05
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available