I104T (p.Ile104Thr) variant of LYST (Lysosomal-trafficking regulator)
I104T (p.Ile104Thr) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I104T (p.Ile104Thr) variant details
- p.Ile104Thr
- TOPMed rs1349537073
- gnomAD rs1349537073
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available