A11T (p.Ala11Thr) variant of TERF2 (Q15554)
A11T (p.Ala11Thr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- TOPMed rs1434342134
- gnomAD rs1434342134
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.191