D12Y (p.Asp12Tyr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D12Y (p.Asp12Tyr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- rs762628133
- ClinGen CA9998857
- ClinVar RCV003486397
- ClinVar RCV006276342
- Conflicting interpretations
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.65
- MetaLR 0.99
- MetaSVM 0.91
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients… (PMID 16324086)
- Cited in: Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with… (PMID 17653917)