K54N (p.Lys54Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
K54N (p.Lys54Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- Ensembl rs1598302103
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- Structural context available