S99P (p.Ser99Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
S99P (p.Ser99Pro) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
S99P (p.Ser99Pro) variant details
- p.Ser99Pro
- Ensembl rs1907919057
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available