L4F (p.Leu4Phe) variant of C9ORF72 (Q96LT7)
L4F (p.Leu4Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- TOPMed rs1160361643
- gnomAD rs1160361643
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.08
- AlphaMissense 0.17
- MetaLR 0.07
- MetaSVM -1.06
- CADD 20.80
- PolyPhen-2 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available