S77G (p.Ser77Gly) variant of C9ORF72 (Q96LT7)
S77G (p.Ser77Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S77G (p.Ser77Gly) variant details
- p.Ser77Gly
- TOPMed rs1357313941
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.04
- AlphaMissense 0.44
- MetaLR 0.16
- MetaSVM -0.92
- CADD 17.30
- PolyPhen-2 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available