L19V (p.Leu19Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
L19V (p.Leu19Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes published literature and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- rs2523833160
- ClinGen CA413905977
- ClinVar RCV004437450
- Uncertain significance
- Inborn genetic diseases
- Missense
- 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)