H17R (p.His17Arg) variant of TERT (Telomerase reverse transcriptase)
H17R (p.His17Arg) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H17R (p.His17Arg) variant details
- p.His17Arg
- Ensembl rs2126692678
- Likely benign
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.65
- CADD 5.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Dyskeratosis congenita)
- UniProt: Likely benign
- Population evidence available
- Structural context available