G61A (p.Gly61Ala) variant of MECOM (Q03112)
G61A (p.Gly61Ala) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
G61A (p.Gly61Ala) variant details
- p.Gly61Ala
- ExAC rs780382585
- TOPMed rs780382585
- gnomAD rs780382585
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)