D103H (p.Asp103His) variant of LYST (Lysosomal-trafficking regulator)
D103H (p.Asp103His) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D103H (p.Asp103His) variant details
- p.Asp103His
- ExAC rs765939688
- TOPMed rs765939688
- gnomAD rs765939688
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available