A4T (p.Ala4Thr) variant of TERT (Telomerase reverse transcriptase)
A4T (p.Ala4Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- Ensembl rs1579599369
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- MetaLR 0.78
- MetaSVM 0.51
- CADD 21.80
- PolyPhen-2 0.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 6.2e-05)
- Structural context available