L22P (p.Leu22Pro) variant of TERT (Telomerase reverse transcriptase)
L22P (p.Leu22Pro) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- Ensembl rs2126692528
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.69
- MetaLR 0.82
- MetaSVM 0.50
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available