A128T (p.Ala128Thr) variant of LYST (Lysosomal-trafficking regulator)
A128T (p.Ala128Thr) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- Ensembl rs1673341807
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.03
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available