P87T (p.Pro87Thr) variant of LYST (Lysosomal-trafficking regulator)
P87T (p.Pro87Thr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P87T (p.Pro87Thr) variant details
- p.Pro87Thr
- rs779163949
- ClinGen CA1467678
- ClinVar RCV001935803
- ClinVar RCV006280799
- Uncertain significance
- Chédiak-Higashi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.59
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)