W23C (p.Trp23Cys) variant of SPG7 (Q9UQ90)
W23C (p.Trp23Cys) in SPG7 (Q9UQ90) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- gnomAD rs1457238867
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available