S67F (p.Ser67Phe) variant of VCAN (Versican core protein)
S67F (p.Ser67Phe) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S67F (p.Ser67Phe) variant details
- p.Ser67Phe
- gnomAD 5-83490227-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.39
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available