G70R (p.Gly70Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G70R (p.Gly70Arg) 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. The record also includes variant effect predictions, population frequency data, and published literature.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs1559442896
- ClinGen CA352749446
- ClinVar RCV003357653
- Ensembl rs1559442896
- Uncertain significance
- Inborn genetic diseases
- Missense
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)