G15C (p.Gly15Cys) variant of TERF2 (Q15554)
G15C (p.Gly15Cys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- TOPMed rs2014189694
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.642