I78V (p.Ile78Val) variant of LAMP2 (P13473)
I78V (p.Ile78Val) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and published literature.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- rs748676358
- ClinGen CA10505328
- ClinVar RCV000808198
- ExAC rs748676358
- Likely benign
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0424
- REVEL 0.02
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Likely benign (Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 6.6e-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)