A74V (p.Ala74Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A74V (p.Ala74Val) 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 provided. The record also includes variant effect predictions, population frequency data, and published literature.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- rs764297570
- ClinGen CA2381618
- ClinVar RCV003077481
- ClinVar RCV005812030
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- CADD 22.20
- PolyPhen-2 0.16
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)