L125F (p.Leu125Phe) variant of C9ORF72 (Q96LT7)
L125F (p.Leu125Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L125F (p.Leu125Phe) variant details
- p.Leu125Phe
- ESP rs372541138
- TOPMed rs372541138
- gnomAD rs372541138
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.46
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available