D13Y (p.Asp13Tyr) variant of MCM5 (P33992)
D13Y (p.Asp13Tyr) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- 1000Genomes rs575116718
- TOPMed rs575116718
- gnomAD rs575116718
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.47
- MetaLR 0.34
- MetaSVM -0.26
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available