P38R (p.Pro38Arg) variant of ACAN (Aggrecan core protein)
P38R (p.Pro38Arg) 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.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- gnomAD 15-88838705-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available