L52F (p.Leu52Phe) variant of VCAN (Versican core protein)
L52F (p.Leu52Phe) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- gnomAD 5-83490183-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available