D112N (p.Asp112Asn) variant of LAMP2 (P13473)
D112N (p.Asp112Asn) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- rs1921044662
- ClinGen CA414402960
- ClinVar RCV003509915
- cosmic curated COSV10874
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.16
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.11
- SIFT 0.16
- EVE 0.51
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)