D4E (p.Asp4Glu) variant of LYST (Lysosomal-trafficking regulator)
D4E (p.Asp4Glu) 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.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- TOPMed rs928840637
- gnomAD rs928840637
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available