Q126R (p.Gln126Arg) variant of TERF2 (Q15554)
Q126R (p.Gln126Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q126R (p.Gln126Arg) variant details
- p.Gln126Arg
- gnomAD rs1466400497
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.60
- CADD 33.00
- PolyPhen-2 0.83
- SIFT 0.05
- Population evidence available
- Structural context available