S122C (p.Ser122Cys) variant of C9ORF72 (Q96LT7)
S122C (p.Ser122Cys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S122C (p.Ser122Cys) variant details
- p.Ser122Cys
- ExAC rs773159639
- gnomAD rs773159639
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available