L8P (p.Leu8Pro) variant of LYST (Lysosomal-trafficking regulator)
L8P (p.Leu8Pro) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- TOPMed rs1313658431
- gnomAD rs1313658431
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.68
- CADD 27.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available