S23T (p.Ser23Thr) variant of TERF2 (Q15554)
S23T (p.Ser23Thr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- ExAC rs768540672
- TOPMed rs768540672
- gnomAD rs768540672
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.539