H44R (p.His44Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H44R (p.His44Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 10; Amyotrophic lateral scleros. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H44R (p.His44Arg) variant details
- p.His44Arg
- rs121912435
- ClinGen CA257319
- ClinVar RCV000015878
- ClinVar RCV000713397
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 10; Amyotrophic lateral scleros
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.06
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 10; Amyotrophic)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. (PMID 12963370)
- Cited in: Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced… (PMID 7891072)