L121F (p.Leu121Phe) variant of C9ORF72 (Q96LT7)
L121F (p.Leu121Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L121F (p.Leu121Phe) variant details
- p.Leu121Phe
- TOPMed rs1363703997
- gnomAD rs1363703997
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available