G61V (p.Gly61Val) variant of MECOM (Q03112)
G61V (p.Gly61Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- ExAC rs780382585
- TOPMed rs780382585
- gnomAD rs780382585
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 22.80
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)