V26I (p.Val26Ile) variant of LRRK2 (Q5S007)
V26I (p.Val26Ile) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- rs752119684
- ClinGen CA6512975
- ClinVar RCV002400591
- ExAC rs752119684
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.03
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)