G34R (p.Gly34Arg) variant of TERF2 (Q15554)
G34R (p.Gly34Arg) 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.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- TOPMed rs982962134
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.331