R50Q (p.Arg50Gln) variant of COL1A1 (Collagen alpha-1(I) chain)
R50Q (p.Arg50Gln) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- NCI-TCGA TCGA novel
- TOPMed rs1907935641
- gnomAD rs1907935641
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available