R72L (p.Arg72Leu) variant of TERF2 (Q15554)
R72L (p.Arg72Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R72L (p.Arg72Leu) variant details
- p.Arg72Leu
- gnomAD rs1196829935
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.40
- PolyPhen-2 0.44
- SIFT 0.08
- Population evidence available
- Structural context available