P34R (p.Pro34Arg) variant of ACAN (Aggrecan core protein)
P34R (p.Pro34Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD 15-88838693-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available