G44A (p.Gly44Ala) variant of ACAN (Aggrecan core protein)
G44A (p.Gly44Ala) in ACAN (Aggrecan core protein) 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.
G44A (p.Gly44Ala) variant details
- p.Gly44Ala
- gnomAD rs1896569344
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available