V52I (p.Val52Ile) variant of C9ORF72 (Q96LT7)
V52I (p.Val52Ile) 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.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- cosmic curated COSV10822
- ESP rs144163719
- ExAC rs144163719
- TOPMed rs144163719
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.02
- CADD 3.15
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available