R150S (p.Arg150Ser) variant of C9ORF72 (Q96LT7)
R150S (p.Arg150Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R150S (p.Arg150Ser) variant details
- p.Arg150Ser
- TOPMed rs1359333719
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available