V95I (p.Val95Ile) variant of C9ORF72 (Q96LT7)
V95I (p.Val95Ile) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- gnomAD rs547548706
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.64
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available