S107C (p.Ser107Cys) variant of LAMP2 (P13473)
S107C (p.Ser107Cys) 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 0.20 / 1. The record also includes population frequency data and published literature.
S107C (p.Ser107Cys) variant details
- p.Ser107Cys
- rs730880497
- ClinGen CA333716
- ClinVar RCV000157990
- ClinVar RCV000621428
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00023)
- 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)