V16D (p.Val16Asp) variant of TERF2 (Q15554)
V16D (p.Val16Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V16D (p.Val16Asp) variant details
- p.Val16Asp
- TOPMed rs1367134267
- gnomAD rs1367134267
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 6e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.885