D19G (p.Asp19Gly) variant of TERF2 (Q15554)
D19G (p.Asp19Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- ExAC rs773981277
- TOPMed rs773981277
- gnomAD rs773981277
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.0028)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.557