V29M (p.Val29Met) variant of PRKN (O60260)
V29M (p.Val29Met) in PRKN (O60260) 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 record also includes experimental measurements, published literature, and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- rs2547060417
- ClinGen CA366477348
- ClinVar RCV002610390
- ClinVar RCV004068811
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.06
- 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)