A20E (p.Ala20Glu) variant of VCAN (Versican core protein)
A20E (p.Ala20Glu) in VCAN (Versican core protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- rs750206974
- NCI-TCGA Cosmic COSV5411
- cosmic curated COSV54114
- ExAC rs750206974
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available