A61V (p.Ala61Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A61V (p.Ala61Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- gnomAD 21-31666461-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available