V24I (p.Val24Ile) variant of LYST (Lysosomal-trafficking regulator)
V24I (p.Val24Ile) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- 1000Genomes rs201023832
- ESP rs201023832
- ExAC rs201023832
- TOPMed rs201023832
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available