D53N (p.Asp53Asn) variant of COL1A2 (Collagen alpha-2(I) chain)
D53N (p.Asp53Asn) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs2484693606
- ClinGen CA368219145
- ClinVar RCV003783350
- ClinVar RCV004759290
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)