H137R (p.His137Arg) variant of C9ORF72 (Q96LT7)
H137R (p.His137Arg) 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.
H137R (p.His137Arg) variant details
- p.His137Arg
- ExAC rs753158467
- gnomAD rs753158467
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available