P57R (p.Pro57Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
P57R (p.Pro57Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
P57R (p.Pro57Arg) variant details
- p.Pro57Arg
- TOPMed rs1451346004
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.20
- Structural context available