A5T (p.Ala5Thr) variant of TERF2 (Q15554)
A5T (p.Ala5Thr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- TOPMed rs892268339
- gnomAD rs892268339
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.192