L52S (p.Leu52Ser) variant of VCAN (Versican core protein)
L52S (p.Leu52Ser) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- gnomAD 5-83490182-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.06
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available