I158T (p.Ile158Thr) variant of C9ORF72 (Q96LT7)
I158T (p.Ile158Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I158T (p.Ile158Thr) variant details
- p.Ile158Thr
- gnomAD rs1468916949
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available