P96L (p.Pro96Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
P96L (p.Pro96Leu) 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; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P96L (p.Pro96Leu) variant details
- p.Pro96Leu
- rs747163212
- ClinGen CA8645795
- ClinVar RCV001210575
- ClinVar RCV003317451
- Uncertain significance
- Osteogenesis imperfecta type I; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.24
- ESM-1b 0.84
- AlphaMissense 0.09
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; not provided; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)