P30L (p.Pro30Leu) variant of VCAN (Versican core protein)
P30L (p.Pro30Leu) 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 and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- TOPMed rs202176395
- gnomAD rs202176395
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- CADD 16.80
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available