R39G (p.Arg39Gly) variant of TERF2 (Q15554)
R39G (p.Arg39Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- TOPMed rs902821409
- gnomAD rs902821409
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.15
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.0152