R41L (p.Arg41Leu) variant of TERT (Telomerase reverse transcriptase)
R41L (p.Arg41Leu) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- gnomAD rs1176288815
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.30
- MetaLR 0.71
- MetaSVM -0.12
- CADD 13.60
- PolyPhen-2 0.15
- SIFT 0.17
- Most common in the Ashkenazi Jewish population (allele frequency 4.6e-05)
- Structural context available