Q126E (p.Gln126Glu) variant of TERF2 (Q15554)
Q126E (p.Gln126Glu) 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.
Q126E (p.Gln126Glu) variant details
- p.Gln126Glu
- ExAC rs766892852
- gnomAD rs766892852
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.97
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.02
- Population evidence available
- Structural context available