H49N (p.His49Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H49N (p.His49Asn) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H49N (p.His49Asn) variant details
- p.His49Asn
- gnomAD 21-31663862-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available