K110N (p.Lys110Asn) variant of LYST (Lysosomal-trafficking regulator)
K110N (p.Lys110Asn) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K110N (p.Lys110Asn) variant details
- p.Lys110Asn
- ExAC rs764938143
- TOPMed rs764938143
- gnomAD rs764938143
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available