V44A (p.Val44Ala) variant of LRRK2 (Q5S007)
V44A (p.Val44Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- rs1394478762
- ClinGen CA384398698
- ClinVar RCV002385663
- ClinVar RCV005626650
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.35
- MutPred 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)