T107N (p.Thr107Asn) variant of LYST (Lysosomal-trafficking regulator)
T107N (p.Thr107Asn) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T107N (p.Thr107Asn) variant details
- p.Thr107Asn
- rs750083768
- ClinGen CA1467648
- ClinVar RCV001973747
- ExAC rs750083768
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.09
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)