H44Y (p.His44Tyr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H44Y (p.His44Tyr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 21-31663847-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.05
- CADD 23.50
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available