E91Q (p.Glu91Gln) variant of LYST (Lysosomal-trafficking regulator)
E91Q (p.Glu91Gln) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E91Q (p.Glu91Gln) variant details
- p.Glu91Gln
- gnomAD rs1673625438
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available