T37A (p.Thr37Ala) variant of LYST (Lysosomal-trafficking regulator)
T37A (p.Thr37Ala) 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 Inborn genetic diseases; not provided; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- rs776142039
- ClinGen CA1467729
- ClinVar RCV001966272
- ClinVar RCV004044613
- Uncertain significance
- Inborn genetic diseases; not provided; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.16
- CADD 20.00
- PolyPhen-2 0.37
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)