L14P (p.Leu14Pro) variant of RYR2 (Ryanodine receptor 2)
L14P (p.Leu14Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs886043844
- ClinGen CA10606020
- ClinVar RCV000296459
- ClinVar RCV003103988
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.08
- CADD 27.20
- PolyPhen-2 0.69
- SIFT 0.02
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)