V52A (p.Val52Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
V52A (p.Val52Ala) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- ExAC rs774838723
- gnomAD rs774838723
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available