K105N (p.Lys105Asn) variant of MECOM (Q03112)
K105N (p.Lys105Asn) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
K105N (p.Lys105Asn) variant details
- p.Lys105Asn
- ExAC rs745897682
- TOPMed rs745897682
- gnomAD rs745897682
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 20.20
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)