D12N (p.Asp12Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D12N (p.Asp12Asn) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- gnomAD 21-31659803-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- MetaLR 0.97
- MetaSVM 1.12
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available