R50P (p.Arg50Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
R50P (p.Arg50Pro) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- TOPMed rs1907935641
- gnomAD rs1907935641
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.96
- Structural context available