L8R (p.Leu8Arg) variant of LYST (Lysosomal-trafficking regulator)
L8R (p.Leu8Arg) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- TOPMed rs1313658431
- gnomAD rs1313658431
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.65
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available