A8G (p.Ala8Gly) variant of TERF2 (Q15554)
A8G (p.Ala8Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- TOPMed rs958788634
- gnomAD rs958788634
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.233