V83L (p.Val83Leu) variant of LYST (Lysosomal-trafficking regulator)
V83L (p.Val83Leu) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V83L (p.Val83Leu) variant details
- p.Val83Leu
- gnomAD rs1673627982
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.24
- CADD 23.50
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available