T37K (p.Thr37Lys) variant of LYST (Lysosomal-trafficking regulator)
T37K (p.Thr37Lys) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T37K (p.Thr37Lys) variant details
- p.Thr37Lys
- ESP rs375106444
- ExAC rs375106444
- TOPMed rs375106444
- gnomAD rs375106444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.77
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available