P54H (p.Pro54His) variant of VCAN (Versican core protein)
P54H (p.Pro54His) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- gnomAD 5-83490188-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available