G71E (p.Gly71Glu) variant of TERF2 (Q15554)
G71E (p.Gly71Glu) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G71E (p.Gly71Glu) variant details
- p.Gly71Glu
- rs1024858404
- ClinGen CA283333294
- ClinVar RCV004472036
- TOPMed rs1024858404
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- MetaLR 0.20
- MetaSVM -0.53
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available