A61T (p.Ala61Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A61T (p.Ala61Thr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- NCI-TCGA Cosmic COSV5425
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available