P127R (p.Pro127Arg) variant of LAMP2 (P13473)
P127R (p.Pro127Arg) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
P127R (p.Pro127Arg) variant details
- p.Pro127Arg
- rs1200950486
- ClinGen CA414402753
- ClinVar RCV001799287
- ClinVar RCV001868906
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.79
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)