K65R (p.Lys65Arg) variant of MECOM (Q03112)
K65R (p.Lys65Arg) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- TOPMed rs1419537805
- gnomAD rs1419537805
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)