A68G (p.Ala68Gly) variant of TERF2 (Q15554)
A68G (p.Ala68Gly) 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.
A68G (p.Ala68Gly) variant details
- p.Ala68Gly
- TOPMed rs1471791865
- gnomAD rs1471791865
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.01
- CADD 23.00
- PolyPhen-2 0.52
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available