P3612L (p.Pro3612Leu) variant of RYR2 (Ryanodine receptor 2)
P3612L (p.Pro3612Leu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici. The record also includes variant effect predictions and structural context.
P3612L (p.Pro3612Leu) variant details
- p.Pro3612Leu
- NCI-TCGA TCGA novel
- Likely pathogenic
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- ClinVar: Likely pathogenic (Ventricular arrhythmias due to cardiac ryanodine receptor calciu)
- UniProt: Likely pathogenic
- Structural context available