R69W (p.Arg69Trp) variant of TERF2 (Q15554)
R69W (p.Arg69Trp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R69W (p.Arg69Trp) variant details
- p.Arg69Trp
- TOPMed rs909960303
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.61
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available