S122R (p.Ser122Arg) variant of C9ORF72 (Q96LT7)
S122R (p.Ser122Arg) in C9ORF72 (Q96LT7) 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.
S122R (p.Ser122Arg) variant details
- p.Ser122Arg
- ExAC rs773159639
- gnomAD rs773159639
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available