A20S (p.Ala20Ser) variant of VCAN (Versican core protein)
A20S (p.Ala20Ser) 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 and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- TOPMed rs1216091543
- gnomAD rs1216091543
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available