Q34H (p.Gln34His) variant of TERT (Telomerase reverse transcriptase)
Q34H (p.Gln34His) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q34H (p.Gln34His) variant details
- p.Gln34His
- gnomAD rs1751296255
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.23
- MetaLR 0.62
- MetaSVM -0.20
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available