H991N (p.His991Asn) variant of LYST (Lysosomal-trafficking regulator)
H991N (p.His991Asn) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recurrent infections; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H991N (p.His991Asn) variant details
- p.His991Asn
- rs864309530
- ClinGen CA339629
- ClinVar RCV000202612
- ClinVar RCV005230075
- Likely pathogenic
- Recurrent infections; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- AlphaMissense 0.19
- MetaLR 0.20
- MetaSVM -0.84
- CADD 16.60
- PolyPhen-2 0.70
- ClinVar: Likely pathogenic (Recurrent infections; Chédiak-Higashi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)