G44R (p.Gly44Arg) variant of ACAN (Aggrecan core protein)
G44R (p.Gly44Arg) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteochondritis dissecans. 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.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- rs1896569256
- ClinGen CA393714784
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61360
- Uncertain significance
- Osteochondritis dissecans
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Osteochondritis dissecans)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available