V86F (p.Val86Phe) variant of C9ORF72 (Q96LT7)
V86F (p.Val86Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V86F (p.Val86Phe) variant details
- p.Val86Phe
- TOPMed rs1023923990
- gnomAD rs1023923990
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.34
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available