L42F (p.Leu42Phe) variant of ACAN (Aggrecan core protein)
L42F (p.Leu42Phe) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD 15-88838716-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available