H17N (p.His17Asn) variant of TERT (Telomerase reverse transcriptase)
H17N (p.His17Asn) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H17N (p.His17Asn) variant details
- p.His17Asn
- TOPMed rs1348895488
- gnomAD rs1348895488
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- MetaLR 0.45
- MetaSVM -0.54
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available