I114V (p.Ile114Val) variant of C9ORF72 (Q96LT7)
I114V (p.Ile114Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- ExAC rs373008422
- TOPMed rs373008422
- gnomAD rs373008422
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available