H47P (p.His47Pro) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H47P (p.His47Pro) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H47P (p.His47Pro) variant details
- p.His47Pro
- gnomAD 21-31663857-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- MetaLR 1.00
- MetaSVM 0.89
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available