P55L (p.Pro55Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
P55L (p.Pro55Leu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- ExAC rs771489142
- TOPMed rs771489142
- gnomAD rs771489142
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available