E125D (p.Glu125Asp) variant of LYST (Lysosomal-trafficking regulator)
E125D (p.Glu125Asp) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E125D (p.Glu125Asp) variant details
- p.Glu125Asp
- gnomAD rs1450462176
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available