V30V (p.Val30Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V30V (p.Val30Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- rs748040402
- gnomAD 21-31663807-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 4.62
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available