P29R (p.Pro29Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
P29R (p.Pro29Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- Ensembl rs11556621
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.46
- MetaLR 0.99
- MetaSVM 1.22
- CADD 17.70
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available