P94H (p.Pro94His) variant of LAMP2 (P13473)
P94H (p.Pro94His) 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 0.19 / 1. The record also includes population frequency data.
P94H (p.Pro94His) variant details
- p.Pro94His
- rs1348977041
- ClinGen CA414403220
- ClinVar RCV002441792
- TOPMed rs1348977041
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.00
- CADD 12.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.6e-05)