H48L (p.His48Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
H48L (p.His48Leu) in COL1A1 (Collagen alpha-1(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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H48L (p.His48Leu) variant details
- p.His48Leu
- rs1273874412
- ClinGen CA400228596
- ClinVar RCV002297960
- gnomAD rs1273874412
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)