R31L (p.Arg31Leu) variant of TERF2 (Q15554)
R31L (p.Arg31Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- ExAC rs779995921
- TOPMed rs779995921
- gnomAD rs779995921
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.444