S113R (p.Ser113Arg) variant of LAMP2 (P13473)
S113R (p.Ser113Arg) 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 0.16 / 1. The record also includes population frequency data and published literature.
S113R (p.Ser113Arg) variant details
- p.Ser113Arg
- rs147369153
- ClinGen CA414402933
- cosmic curated COSV10632
- ClinVar RCV000520142
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.09
- CADD 12.80
- PolyPhen-2 0.07
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Danon disease)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- 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)