P64S (p.Pro64Ser) variant of ACAN (Aggrecan core protein)
P64S (p.Pro64Ser) 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 and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- cosmic curated COSV61362
- gnomAD rs1178817726
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available