V17I (p.Val17Ile) variant of LAMP2 (P13473)
V17I (p.Val17Ile) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs777718603
- ClinGen CA10505372
- ClinVar RCV001997230
- ClinVar RCV002334962
- Uncertain significance
- Danon disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- REVEL 0.02
- CADD 5.88
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Danon disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00011)
- 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)