V35I (p.Val35Ile) variant of MECOM (Q03112)
V35I (p.Val35Ile) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- TOPMed rs1261966114
- gnomAD rs1261966114
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 8.54
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Middle Eastern population (allele frequency 0.00017)