G66R (p.Gly66Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G66R (p.Gly66Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs1240249424
- ClinGen CA400228398
- ClinVar RCV002423465
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 29.60
- PolyPhen-2 0.49
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available