F61S (p.Phe61Ser) variant of C9ORF72 (Q96LT7)
F61S (p.Phe61Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F61S (p.Phe61Ser) variant details
- p.Phe61Ser
- TOPMed rs1324943336
- gnomAD rs1324943336
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.70
- CADD 28.30
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available