V28I (p.Val28Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
V28I (p.Val28Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- Ensembl rs2144600249
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available