N17S (p.Asn17Ser) variant of LYST (Lysosomal-trafficking regulator)
N17S (p.Asn17Ser) 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; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- rs1177000208
- ClinGen CA344969379
- ClinVar RCV001223072
- ClinVar RCV004629494
- Uncertain significance
- Inborn genetic diseases; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)