H137L (p.His137Leu) variant of C9ORF72 (Q96LT7)
H137L (p.His137Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H137L (p.His137Leu) variant details
- p.His137Leu
- ExAC rs753158467
- gnomAD rs753158467
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available