V130A (p.Val130Ala) variant of C9ORF72 (Q96LT7)
V130A (p.Val130Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V130A (p.Val130Ala) variant details
- p.Val130Ala
- gnomAD rs1484801234
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available