S3I (p.Ser3Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
S3I (p.Ser3Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S3I (p.Ser3Ile) variant details
- p.Ser3Ile
- Ensembl rs1031641541
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- ESM-1b 0.22
- AlphaMissense 0.83
- CADD 18.90
- Population evidence available
- Structural context available