A4S (p.Ala4Ser) variant of TERT (Telomerase reverse transcriptase)
A4S (p.Ala4Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- Ensembl rs1579599369
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.27
- MetaLR 0.61
- MetaSVM 0.02
- CADD 17.00
- PolyPhen-2 0.40
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available