P94A (p.Pro94Ala) variant of LAMP2 (P13473)
P94A (p.Pro94Ala) 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; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature.
P94A (p.Pro94Ala) variant details
- p.Pro94Ala
- rs2147286839
- ClinGen CA414403223
- ClinVar RCV002016498
- ClinVar RCV005654939
- Conflicting interpretations
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.81
- EVE 0.13
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- 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)