D19V (p.Asp19Val) variant of TERF2 (Q15554)
D19V (p.Asp19Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- ExAC rs773981277
- TOPMed rs773981277
- gnomAD rs773981277
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.557