R107P (p.Arg107Pro) variant of C9ORF72 (Q96LT7)
R107P (p.Arg107Pro) 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.
R107P (p.Arg107Pro) variant details
- p.Arg107Pro
- ESP rs145645318
- ExAC rs145645318
- TOPMed rs145645318
- gnomAD rs145645318
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.06
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available