V114I (p.Val114Ile) variant of LAMP2 (P13473)
V114I (p.Val114Ile) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V114I (p.Val114Ile) variant details
- p.Val114Ile
- rs377652722
- ClinGen CA333610
- cosmic curated COSV52356
- ClinVar RCV001532707
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7.4e-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)