A74T (p.Ala74Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A74T (p.Ala74Thr) 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.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs753989945
- ClinGen CA2381619
- ClinVar RCV002592321
- ClinVar RCV005812060
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 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)