P64L (p.Pro64Leu) variant of ACAN (Aggrecan core protein)
P64L (p.Pro64Leu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- gnomAD rs1296036330
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 20.30
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available