V6C (p.Val6Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V6C (p.Val6Cys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V6C (p.Val6Cys) variant details
- p.Val6Cys
- rs1568807304
- gnomAD 21-31659782-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available