W145G (p.Trp145Gly) variant of C9ORF72 (Q96LT7)
W145G (p.Trp145Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
W145G (p.Trp145Gly) variant details
- p.Trp145Gly
- gnomAD rs1455815295
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- AlphaMissense 0.99
- MetaLR 0.19
- MetaSVM -0.85
- CADD 24.10
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available