S130T (p.Ser130Thr) variant of LYST (Lysosomal-trafficking regulator)
S130T (p.Ser130Thr) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S130T (p.Ser130Thr) variant details
- p.Ser130Thr
- rs773369935
- ClinGen CA1467639
- ClinVar RCV001968568
- ExAC rs773369935
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0677
- REVEL 0.02
- CADD 9.02
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)