A9V (p.Ala9Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A9V (p.Ala9Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs533528646
- ClinGen CA2381682
- ClinVar RCV002629824
- ClinVar RCV003269523
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- CADD 8.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)