G48E (p.Gly48Glu) variant of TERF2 (Q15554)
G48E (p.Gly48Glu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- TOPMed rs1308522744
- gnomAD rs1308522744
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -0.90
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.696