P50L (p.Pro50Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
P50L (p.Pro50Leu) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs377637698
- ClinGen CA368219132
- ClinVar RCV001925070
- ESP rs377637698
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)