L53Q (p.Leu53Gln) variant of LYST (Lysosomal-trafficking regulator)
L53Q (p.Leu53Gln) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L53Q (p.Leu53Gln) variant details
- p.Leu53Gln
- gnomAD rs1675805723
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- CADD 25.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available