T94A (p.Thr94Ala) variant of LYST (Lysosomal-trafficking regulator)
T94A (p.Thr94Ala) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- rs886046182
- ClinGen CA10610430
- ClinVar RCV000278844
- Ensembl rs886046182
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.098
- REVEL 0.12
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)