M146L (p.Met146Leu) variant of C9ORF72 (Q96LT7)
M146L (p.Met146Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M146L (p.Met146Leu) variant details
- p.Met146Leu
- gnomAD rs1273640725
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available