G91R (p.Gly91Arg) variant of C9ORF72 (Q96LT7)
G91R (p.Gly91Arg) in C9ORF72 (Q96LT7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G91R (p.Gly91Arg) variant details
- p.Gly91Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available