C91G (p.Cys91Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
C91G (p.Cys91Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C91G (p.Cys91Gly) variant details
- p.Cys91Gly
- gnomAD rs1188138154
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available