N32D (p.Asn32Asp) variant of LAMP2 (P13473)
N32D (p.Asn32Asp) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N32D (p.Asn32Asp) variant details
- p.Asn32Asp
- rs367625418
- ClinGen CA335014097
- ClinVar RCV002635928
- ESP rs367625418
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.06
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- 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)