I80V (p.Ile80Val) variant of C9ORF72 (Q96LT7)
I80V (p.Ile80Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- TOPMed rs1443022155
- gnomAD rs1443022155
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.05
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available