V16A (p.Val16Ala) variant of TERF2 (Q15554)
V16A (p.Val16Ala) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- TOPMed rs1367134267
- gnomAD rs1367134267
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 27.70
- PolyPhen-2 0.94
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.885