A106S (p.Ala106Ser) variant of LAMP2 (P13473)
A106S (p.Ala106Ser) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
A106S (p.Ala106Ser) variant details
- p.Ala106Ser
- rs1305798857
- ClinGen CA414403036
- ClinVar RCV001866547
- ClinVar RCV003225194
- Uncertain significance
- not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.039
- REVEL 0.01
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not provided; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-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)