D122N (p.Asp122Asn) variant of LAMP2 (P13473)
D122N (p.Asp122Asn) 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 0.42 / 1. The record also includes population frequency data and published literature.
D122N (p.Asp122Asn) variant details
- p.Asp122Asn
- rs730880480
- ClinGen CA333640
- ClinVar RCV000585174
- ClinVar RCV001308958
- Uncertain significance
- not provided; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.1e-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)