A2V (p.Ala2Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A2V (p.Ala2Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- cosmic curated COSV54255
- gnomAD rs1297567794
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- MetaLR 0.95
- MetaSVM 1.23
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available