T3N (p.Thr3Asn) variant of LYST (Lysosomal-trafficking regulator)
T3N (p.Thr3Asn) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- rs548589202
- ClinGen CA344969506
- ClinVar RCV002944225
- ClinVar RCV004526952
- Uncertain significance
- Chédiak-Higashi syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)