N64Y (p.Asn64Tyr) variant of MCM5 (P33992)
N64Y (p.Asn64Tyr) in MCM5 (P33992) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N64Y (p.Asn64Tyr) variant details
- p.Asn64Tyr
- TOPMed rs1180611774
- gnomAD rs1180611774
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.24
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.40
- PolyPhen-2 0.21
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available