A93T (p.Ala93Thr) variant of LYST (Lysosomal-trafficking regulator)
A93T (p.Ala93Thr) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A93T (p.Ala93Thr) variant details
- p.Ala93Thr
- gnomAD rs1441889423
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available