V5E (p.Val5Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
V5E (p.Val5Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- Ensembl rs1908095519
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- ESM-1b 0.00
- AlphaMissense 0.81
- Structural context available