V28A (p.Val28Ala) variant of TERT (Telomerase reverse transcriptase)
V28A (p.Val28Ala) 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 0.27 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- Ensembl rs1561215157
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.12
- MetaLR 0.56
- MetaSVM -0.40
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available