A88G (p.Ala88Gly) variant of TERF2 (Q15554)
A88G (p.Ala88Gly) in TERF2 (Q15554) 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 0.21 / 1. The record also includes population frequency data and structural context.
A88G (p.Ala88Gly) variant details
- p.Ala88Gly
- ESP rs146506589
- ExAC rs146506589
- TOPMed rs146506589
- gnomAD rs146506589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.04
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available