P33H (p.Pro33His) variant of TERT (Telomerase reverse transcriptase)
P33H (p.Pro33His) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P33H (p.Pro33His) variant details
- p.Pro33His
- Ensembl rs2126692176
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.20
- MetaLR 0.65
- MetaSVM -0.30
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available