D19N (p.Asp19Asn) variant of TERF2 (Q15554)
D19N (p.Asp19Asn) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- TOPMed rs998415453
- gnomAD rs998415453
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.557