G66R (p.Gly66Arg) variant of TERF2 (Q15554)
G66R (p.Gly66Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- TOPMed rs2014180024
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.35
- MetaLR 0.16
- MetaSVM -0.56
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available