E31K (p.Glu31Lys) variant of LYST (Lysosomal-trafficking regulator)
E31K (p.Glu31Lys) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- ExAC rs766509659
- TOPMed rs766509659
- gnomAD rs766509659
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.20
- CADD 26.80
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available