G142V (p.Gly142Val) variant of C9ORF72 (Q96LT7)
G142V (p.Gly142Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G142V (p.Gly142Val) variant details
- p.Gly142Val
- 1000Genomes rs558489073
- gnomAD rs558489073
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.67
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available