L5F (p.Leu5Phe) variant of ACAN (Aggrecan core protein)
L5F (p.Leu5Phe) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs371249232
- ClinGen CA7719113
- ClinVar RCV003115980
- ESP rs371249232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available