G79C (p.Gly79Cys) variant of TERF2 (Q15554)
G79C (p.Gly79Cys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G79C (p.Gly79Cys) variant details
- p.Gly79Cys
- ExAC rs748452006
- TOPMed rs748452006
- gnomAD rs748452006
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -0.96
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available