Q168R (p.Gln168Arg) variant of C9ORF72 (Q96LT7)
Q168R (p.Gln168Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q168R (p.Gln168Arg) variant details
- p.Gln168Arg
- TOPMed rs1017594063
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.24
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available