R29G (p.Arg29Gly) variant of TERT (Telomerase reverse transcriptase)
R29G (p.Arg29Gly) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- Ensembl rs1024973528
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.25
- MetaLR 0.57
- MetaSVM -0.49
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available