G44R (p.Gly44Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G44R (p.Gly44Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- TOPMed rs1792053566
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available