R70L (p.Arg70Leu) variant of TERF2 (Q15554)
R70L (p.Arg70Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- Ensembl rs968989144
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.53
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available