S108I (p.Ser108Ile) variant of C9ORF72 (Q96LT7)
S108I (p.Ser108Ile) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S108I (p.Ser108Ile) variant details
- p.Ser108Ile
- cosmic curated COSV66155
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available