L53I (p.Leu53Ile) variant of LYST (Lysosomal-trafficking regulator)
L53I (p.Leu53Ile) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- ExAC rs758551378
- TOPMed rs758551378
- gnomAD rs758551378
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.05
- CADD 20.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available