V21M (p.Val21Met) variant of COL7A1 (Collagen alpha-1(VII) chain)
V21M (p.Val21Met) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
V21M (p.Val21Met) variant details
- p.Val21Met
- rs377112899
- ClinGen CA352750308
- ClinVar RCV002602871
- ClinVar RCV005323359
- Uncertain significance
- Inborn genetic diseases; not specified; not provided
- Missense
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.5e-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)