P68S (p.Pro68Ser) variant of ACAN (Aggrecan core protein)
P68S (p.Pro68Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- gnomAD 15-88838794-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available