P127L (p.Pro127Leu) variant of LAMP2 (P13473)
P127L (p.Pro127Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- rs1200950486
- ClinGen CA414402751
- ClinVar RCV001035717
- ClinVar RCV001759724
- Uncertain significance
- Danon disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.72
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Danon disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00038)
- 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)