V44L (p.Val44Leu) variant of LRRK2 (Q5S007)
V44L (p.Val44Leu) in LRRK2 (Q5S007) 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 0.31 / 1. The record also includes published literature and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- rs77507662
- ClinGen CA384398692
- ClinVar RCV004525087
- Ensembl rs77507662
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.18
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.28
- 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)