S67P (p.Ser67Pro) variant of LAMP2 (P13473)
S67P (p.Ser67Pro) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S67P (p.Ser67Pro) variant details
- p.Ser67Pro
- rs2147286966
- ClinGen CA414403506
- ClinVar RCV001898353
- ClinVar RCV003166997
- Uncertain significance
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- REVEL 0.05
- CADD 5.49
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-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)