K31M (p.Lys31Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K31M (p.Lys31Met) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K31M (p.Lys31Met) variant details
- p.Lys31Met
- gnomAD 21-31663809-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.34
- MetaLR 0.95
- MetaSVM 1.07
- CADD 5.01
- PolyPhen-2 0.28
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available