A9V (p.Ala9Val) variant of LYST (Lysosomal-trafficking regulator)
A9V (p.Ala9Val) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- ExAC rs752805538
- gnomAD rs752805538
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.36
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available