V26A (p.Val26Ala) variant of VCAN (Versican core protein)
V26A (p.Val26Ala) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- rs2112352970
- ClinGen CA360294736
- ClinVar RCV002010653
- Ensembl rs2112352970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- CADD 15.20
- PolyPhen-2 0.31
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available