I138T (p.Ile138Thr) variant of C9ORF72 (Q96LT7)
I138T (p.Ile138Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I138T (p.Ile138Thr) variant details
- p.Ile138Thr
- gnomAD rs1295400337
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available