Q168H (p.Gln168His) variant of C9ORF72 (Q96LT7)
Q168H (p.Gln168His) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q168H (p.Gln168His) variant details
- p.Gln168His
- TOPMed rs1303312037
- gnomAD rs1303312037
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.24
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available