K31R (p.Lys31Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K31R (p.Lys31Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- gnomAD 21-31663809-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.17
- MetaLR 0.91
- MetaSVM 0.80
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available