P64R (p.Pro64Arg) variant of ACAN (Aggrecan core protein)
P64R (p.Pro64Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- gnomAD 15-88838783-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available