A11V (p.Ala11Val) variant of MECOM (Q03112)
A11V (p.Ala11Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs767578342
- TOPMed rs767578342
- gnomAD rs767578342
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)