L87V (p.Leu87Val) variant of C9ORF72 (Q96LT7)
L87V (p.Leu87Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L87V (p.Leu87Val) variant details
- p.Leu87Val
- ExAC rs565771464
- TOPMed rs565771464
- gnomAD rs565771464
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- AlphaMissense 0.96
- MetaLR 0.17
- MetaSVM -0.91
- CADD 22.90
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available