P8L (p.Pro8Leu) variant of LAMP2 (P13473)
P8L (p.Pro8Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and published literature.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs878854484
- ClinGen CA10583929
- cosmic curated COSV52352
- ClinVar RCV000234637
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.09
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- 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)