L10P (p.Leu10Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
L10P (p.Leu10Pro) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- rs1265184237
- ClinGen CA400230446
- ClinVar RCV003632855
- TOPMed rs1265184237
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.74
- ESM-1b 0.64
- AlphaMissense 0.63
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.03
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)