R25W (p.Arg25Trp) variant of LAMP2 (P13473)
R25W (p.Arg25Trp) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs730880478
- ClinGen CA333632
- ClinVar RCV000157960
- ClinVar RCV000621632
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0058)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
- Cited in: Danon Disease. (PMID 32134616)