P71R (p.Pro71Arg) variant of ACAN (Aggrecan core protein)
P71R (p.Pro71Arg) 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, published literature, and structural context.
P71R (p.Pro71Arg) variant details
- p.Pro71Arg
- gnomAD 15-88838804-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available