G116E (p.Gly116Glu) variant of TERF2 (Q15554)
G116E (p.Gly116Glu) 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 0.21 / 1. The record also includes population frequency data and structural context.
G116E (p.Gly116Glu) variant details
- p.Gly116Glu
- rs749653608
- ClinGen CA8135001
- ClinVar RCV004312643
- ExAC rs749653608
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.02
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available