P87L (p.Pro87Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
P87L (p.Pro87Leu) 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 not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- rs926503489
- ClinGen CA291551073
- ClinVar RCV000810189
- ClinVar RCV003736908
- Uncertain significance
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Osteogenesis imperfecta type I)
- 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)