K87R (p.Lys87Arg) variant of LAMP2 (P13473)
K87R (p.Lys87Arg) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
K87R (p.Lys87Arg) variant details
- p.Lys87Arg
- rs1556112678
- ClinGen CA414403300
- ClinVar RCV002437159
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0423
- REVEL 0.01
- CADD 2.96
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)