T7R (p.Thr7Arg) variant of TERF2 (Q15554)
T7R (p.Thr7Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- TOPMed rs992001633
- gnomAD rs992001633
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.329