K4N (p.Lys4Asn) variant of MECOM (Q03112)
K4N (p.Lys4Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- TOPMed rs1013793867
- gnomAD rs1013793867
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)