T7K (p.Thr7Lys) variant of TERF2 (Q15554)
T7K (p.Thr7Lys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- TOPMed rs992001633
- gnomAD rs992001633
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.329