N6K (p.Asn6Lys) variant of LYST (Lysosomal-trafficking regulator)
N6K (p.Asn6Lys) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N6K (p.Asn6Lys) variant details
- p.Asn6Lys
- rs563310448
- ClinGen CA344969483
- ClinVar RCV003331676
- ClinVar RCV005655255
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)