V86I (p.Val86Ile) variant of C9ORF72 (Q96LT7)
V86I (p.Val86Ile) 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.
V86I (p.Val86Ile) variant details
- p.Val86Ile
- TOPMed rs1023923990
- gnomAD rs1023923990
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.18
- CADD 23.10
- PolyPhen-2 0.63
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available