S77T (p.Ser77Thr) variant of C9ORF72 (Q96LT7)
S77T (p.Ser77Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S77T (p.Ser77Thr) variant details
- p.Ser77Thr
- gnomAD rs1231777887
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.05
- AlphaMissense 0.31
- MetaLR 0.13
- MetaSVM -0.97
- CADD 20.40
- PolyPhen-2 0.89
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available