S37Y (p.Ser37Tyr) variant of VCAN (Versican core protein)
S37Y (p.Ser37Tyr) in VCAN (Versican core protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S37Y (p.Ser37Tyr) variant details
- p.Ser37Tyr
- ExAC rs770045298
- gnomAD rs770045298
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available