R28Q (p.Arg28Gln) variant of TERF2 (Q15554)
R28Q (p.Arg28Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- TOPMed rs2014186450
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 23.10
- PolyPhen-2 0.95
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.458