E35G (p.Glu35Gly) variant of LYST (Lysosomal-trafficking regulator)
E35G (p.Glu35Gly) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E35G (p.Glu35Gly) variant details
- p.Glu35Gly
- gnomAD rs1185984907
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.25
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available