L100H (p.Leu100His) variant of LYST (Lysosomal-trafficking regulator)
L100H (p.Leu100His) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L100H (p.Leu100His) variant details
- p.Leu100His
- gnomAD rs1673350303
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- CADD 24.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available