R107C (p.Arg107Cys) variant of C9ORF72 (Q96LT7)
R107C (p.Arg107Cys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R107C (p.Arg107Cys) variant details
- p.Arg107Cys
- cosmic curated COSV66154
- gnomAD rs1819477480
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available