R72G (p.Arg72Gly) variant of ACAN (Aggrecan core protein)
R72G (p.Arg72Gly) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- gnomAD rs1443393833
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available