W33R (p.Trp33Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
W33R (p.Trp33Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
W33R (p.Trp33Arg) variant details
- p.Trp33Arg
- rs2049569572
- ClinGen CA410036582
- ClinVar RCV001093459
- Ensembl rs2049569572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.20
- MetaLR 0.81
- MetaSVM 0.61
- PolyPhen-2 0.01
- SIFT 0.14
- EVE 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available