S7T (p.Ser7Thr) variant of VCAN (Versican core protein)
S7T (p.Ser7Thr) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- gnomAD 5-83483538-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available