V41G (p.Val41Gly) variant of C9ORF72 (Q96LT7)
V41G (p.Val41Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V41G (p.Val41Gly) variant details
- p.Val41Gly
- ExAC rs781240158
- gnomAD rs781240158
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.62
- CADD 27.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available