I111V (p.Ile111Val) variant of LAMP2 (P13473)
I111V (p.Ile111Val) 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 0.30 / 1. The record also includes population frequency data and published literature.
I111V (p.Ile111Val) variant details
- p.Ile111Val
- rs762218821
- ClinGen CA10505321
- ClinVar RCV001871775
- ClinVar RCV005590016
- Conflicting interpretations
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.08
- CADD 9.57
- PolyPhen-2 0.01
- SIFT 0.91
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0065)
- 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)