V28A (p.Val28Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
V28A (p.Val28Ala) 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.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- Ensembl rs1374087811
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available