N58K (p.Asn58Lys) variant of MCM3 (P25205)
N58K (p.Asn58Lys) in MCM3 (P25205) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- ESP rs376784894
- ExAC rs376784894
- TOPMed rs376784894
- gnomAD rs376784894
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.30
- PolyPhen-2 0.70
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)