D19H (p.Asp19His) variant of TERF2 (Q15554)
D19H (p.Asp19His) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- TOPMed rs998415453
- gnomAD rs998415453
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.557