L10W (p.Leu10Trp) variant of COL1A2 (Collagen alpha-2(I) chain)
L10W (p.Leu10Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L10W (p.Leu10Trp) variant details
- p.Leu10Trp
- rs758795377
- ClinGen CA368218825
- ClinVar RCV003792689
- ExAC rs758795377
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)