S143N (p.Ser143Asn) variant of LYST (Lysosomal-trafficking regulator)
S143N (p.Ser143Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
S143N (p.Ser143Asn) variant details
- p.Ser143Asn
- ExAC rs749936152
- gnomAD rs749936152
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.05
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available