R70W (p.Arg70Trp) variant of TERF2 (Q15554)
R70W (p.Arg70Trp) 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.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- gnomAD rs2014179341
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.51
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available