L47F (p.Leu47Phe) variant of ACAN (Aggrecan core protein)
L47F (p.Leu47Phe) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- ExAC rs775463088
- TOPMed rs775463088
- gnomAD rs775463088
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 23.20
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available