D5N (p.Asp5Asn) variant of MCM5 (P33992)
D5N (p.Asp5Asn) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs1280481672
- ClinGen CA411356330
- ClinVar RCV001968877
- TOPMed rs1280481672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.50
- MetaLR 0.56
- MetaSVM 0.35
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available