D71N (p.Asp71Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
D71N (p.Asp71Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- Ensembl rs937925262
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.88
- Structural context available