G904A (p.Gly904Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G904A (p.Gly904Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G904A (p.Gly904Ala) variant details
- p.Gly904Ala
- rs775246283
- ClinGen CA4347540
- ClinVar RCV003788021
- ClinVar RCV005003708
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Osteogenesis imperfecta)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)