I138M (p.Ile138Met) variant of C9ORF72 (Q96LT7)
I138M (p.Ile138Met) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I138M (p.Ile138Met) variant details
- p.Ile138Met
- Ensembl rs1819473964
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.15
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.05
- CADD 10.50
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available