V52L (p.Val52Leu) variant of C9ORF72 (Q96LT7)
V52L (p.Val52Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- ESP rs144163719
- ExAC rs144163719
- TOPMed rs144163719
- gnomAD rs144163719
- Missense
- Variant Prioritization Score for Impact Estimate 0.0914
- REVEL 0.01
- CADD 2.43
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available