H72Q (p.His72Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H72Q (p.His72Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H72Q (p.His72Gln) variant details
- p.His72Gln
- rs368042695
- ClinGen CA410037304
- ClinVar RCV002005645
- ESP rs368042695
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.89
- MetaLR 0.99
- MetaSVM 0.98
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)