D4N (p.Asp4Asn) variant of LYST (Lysosomal-trafficking regulator)
D4N (p.Asp4Asn) 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 Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- rs141312203
- ClinGen CA1467756
- cosmic curated COSV10108
- ClinVar RCV001877008
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (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)