V41I (p.Val41Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
V41I (p.Val41Ile) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- rs2144594757
- ClinGen CA400228671
- ClinVar RCV001917749
- Ensembl rs2144594757
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)