H49H (p.His49His) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H49H (p.His49His) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous 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.
H49H (p.His49His) variant details
- p.His49His
- gnomAD 21-31663864-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 6.06
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available