C95F (p.Cys95Phe) variant of COL1A1 (Collagen alpha-1(I) chain)
C95F (p.Cys95Phe) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C95F (p.Cys95Phe) variant details
- p.Cys95Phe
- Ensembl rs767148176
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 0.93
- Structural context available