D77Y (p.Asp77Tyr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D77Y (p.Asp77Tyr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D77Y (p.Asp77Tyr) variant details
- p.Asp77Tyr
- rs1601157750
- ClinGen CA410037333
- ClinVar RCV000993040
- ClinVar RCV001858765
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 0.91
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. (PMID 9365366)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)