R15L (p.Arg15Leu) variant of RYR2 (Ryanodine receptor 2)
R15L (p.Arg15Leu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- Ensembl rs865784613
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.63
- MetaLR 0.90
- MetaSVM 0.72
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.10
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available