S26N (p.Ser26Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
S26N (p.Ser26Asn) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S26N (p.Ser26Asn) variant details
- p.Ser26Asn
- ExAC rs747214897
- gnomAD rs747214897
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- MetaLR 0.93
- MetaSVM 1.37
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available