R107H (p.Arg107His) variant of C9ORF72 (Q96LT7)
R107H (p.Arg107His) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R107H (p.Arg107His) variant details
- p.Arg107His
- cosmic curated COSV66154
- ESP rs145645318
- ExAC rs145645318
- TOPMed rs145645318
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.06
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available