R30M (p.Arg30Met) variant of LYST (Lysosomal-trafficking regulator)
R30M (p.Arg30Met) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R30M (p.Arg30Met) variant details
- p.Arg30Met
- gnomAD rs1394389379
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available