K65N (p.Lys65Asn) variant of MECOM (Q03112)
K65N (p.Lys65Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- gnomAD rs1188279586
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 20.80
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)