P14S (p.Pro14Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
P14S (p.Pro14Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 21-31659809-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.39
- MetaLR 0.96
- MetaSVM 1.22
- CADD 9.89
- PolyPhen-2 0.15
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available