F21L (p.Phe21Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F21L (p.Phe21Leu) 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 Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero. 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.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs1555836170
- ClinGen CA410036078
- ClinVar RCV001065949
- ClinVar RCV005036375
- Pathogenic/Likely pathogenic
- Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (Spastic tetraplegia and axial hypotonia, progressive; Amyotrophi)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)