E125A (p.Glu125Ala) variant of LYST (Lysosomal-trafficking regulator)
E125A (p.Glu125Ala) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E125A (p.Glu125Ala) variant details
- p.Glu125Ala
- gnomAD rs1221276518
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available