R26T (p.Arg26Thr) variant of TERF2 (Q15554)
R26T (p.Arg26Thr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R26T (p.Arg26Thr) variant details
- p.Arg26Thr
- TOPMed rs940851893
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00029)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.287