C20G (p.Cys20Gly) variant of LYST (Lysosomal-trafficking regulator)
C20G (p.Cys20Gly) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C20G (p.Cys20Gly) variant details
- p.Cys20Gly
- gnomAD rs556924327
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.79
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available