R29W (p.Arg29Trp) variant of TERT (Telomerase reverse transcriptase)
R29W (p.Arg29Trp) 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 0.38 / 1. The record also includes population frequency data and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- Ensembl rs1024973528
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.36
- MetaLR 0.68
- MetaSVM -0.04
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available