T3R (p.Thr3Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T3R (p.Thr3Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T3R (p.Thr3Arg) variant details
- p.Thr3Arg
- gnomAD 21-31659777-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.34
- MetaLR 0.97
- MetaSVM 1.30
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available