F126L (p.Phe126Leu) variant of LAMP2 (P13473)
F126L (p.Phe126Leu) 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 0.52 / 1. The record also includes population frequency data.
F126L (p.Phe126Leu) variant details
- p.Phe126Leu
- Ensembl rs1921041004
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.48
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)