A146D (p.Ala146Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A146D (p.Ala146Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Motor neuron disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
A146D (p.Ala146Asp) variant details
- p.Ala146Asp
- rs1131690781
- ClinGen CA410037801
- ClinVar RCV000492706
- Ensembl rs1131690781
- Likely pathogenic
- Motor neuron disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Motor neuron disease)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Structural context available