D6A (p.Asp6Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
D6A (p.Asp6Ala) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
D6A (p.Asp6Ala) variant details
- p.Asp6Ala
- Ensembl rs1598303734
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.91
- Structural context available