V17I (p.Val17Ile) variant of MECOM (Q03112)
V17I (p.Val17Ile) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- gnomAD rs1372371559
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 7.78
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)