L54F (p.Leu54Phe) variant of C9ORF72 (Q96LT7)
L54F (p.Leu54Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- 1000Genomes rs199871012
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available