S55I (p.Ser55Ile) variant of VCAN (Versican core protein)
S55I (p.Ser55Ile) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S55I (p.Ser55Ile) variant details
- p.Ser55Ile
- gnomAD 5-83490191-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.14
- CADD 22.50
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available