V41I (p.Val41Ile) variant of C9ORF72 (Q96LT7)
V41I (p.Val41Ile) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- ExAC rs745772901
- TOPMed rs745772901
- gnomAD rs745772901
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.21
- AlphaMissense 0.92
- MetaLR 0.21
- MetaSVM -0.87
- CADD 21.50
- PolyPhen-2 0.38
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available