I70V (p.Ile70Val) variant of MECOM (Q03112)
I70V (p.Ile70Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- TOPMed rs1274356562
- gnomAD rs1274356562
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)