V94I (p.Val94Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
V94I (p.Val94Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V94I (p.Val94Ile) variant details
- p.Val94Ile
- ExAC rs768947449
- gnomAD rs768947449
- Likely benign
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Likely benign (Osteogenesis imperfecta type I)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available