P10L (p.Pro10Leu) variant of LAMP2 (P13473)
P10L (p.Pro10Leu) 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; Danon disease. 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.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs769378984
- ClinGen CA10505375
- ClinVar RCV000805144
- ClinVar RCV002440711
- Conflicting interpretations
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 18.60
- PolyPhen-2 0.54
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0068)
- 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)