A40T (p.Ala40Thr) variant of LYST (Lysosomal-trafficking regulator)
A40T (p.Ala40Thr) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs906884088
- gnomAD rs906884088
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available