R60L (p.Arg60Leu) variant of TERF2 (Q15554)
R60L (p.Arg60Leu) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- rs2014180762
- ClinGen CA396465877
- ClinVar RCV004472035
- TOPMed rs2014180762
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -0.99
- CADD 22.70
- PolyPhen-2 0.24
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available