G93S (p.Gly93Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G93S (p.Gly93Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- rs758306555
- ClinGen CA2381588
- ClinVar RCV002999138
- ClinVar RCV004065236
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)