V47I (p.Val47Ile) variant of LYST (Lysosomal-trafficking regulator)
V47I (p.Val47Ile) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- rs1675810975
- ClinGen CA344968764
- ClinVar RCV003268314
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.56
- MetaLR 0.42
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)