V17E (p.Val17Glu) variant of MECOM (Q03112)
V17E (p.Val17Glu) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- TOPMed rs1437924277
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 10.20
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)