K99N (p.Lys99Asn) variant of MECOM (Q03112)
K99N (p.Lys99Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
K99N (p.Lys99Asn) variant details
- p.Lys99Asn
- gnomAD rs1178386733
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 23.00
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)