F61L (p.Phe61Leu) variant of VCAN (Versican core protein)
F61L (p.Phe61Leu) in VCAN (Versican 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 0.19 / 1. The record also includes population frequency data and structural context.
F61L (p.Phe61Leu) variant details
- p.Phe61Leu
- rs2478963896
- ClinGen CA360295146
- ClinVar RCV002948573
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- CADD 24.00
- PolyPhen-2 0.59
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available