V67F (p.Val67Phe) variant of LRRK2 (Q5S007)
V67F (p.Val67Phe) 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 0.37 / 1. The record also includes published literature and structural context.
V67F (p.Val67Phe) variant details
- p.Val67Phe
- rs1940833181
- ClinGen CA384399225
- ClinVar RCV002417081
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.41
- MetaLR 0.08
- MetaSVM -0.93
- PolyPhen-2 0.44
- SIFT 0.11
- EVE 0.59
- 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)