K92M (p.Lys92Met) variant of LYST (Lysosomal-trafficking regulator)
K92M (p.Lys92Met) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K92M (p.Lys92Met) variant details
- p.Lys92Met
- ExAC rs757411778
- gnomAD rs757411778
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available