D97A (p.Asp97Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
D97A (p.Asp97Ala) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes structural context.
D97A (p.Asp97Ala) variant details
- p.Asp97Ala
- ExAC rs758351823
- gnomAD rs758351823
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available