T48T (p.Thr48Thr) variant of VCAN (Versican core protein)
T48T (p.Thr48Thr) in VCAN (Versican core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs777382241
- gnomAD 5-83490171-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 1.52
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available