E23D (p.Glu23Asp) variant of MCM5 (P33992)
E23D (p.Glu23Asp) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- TOPMed rs1380987629
- gnomAD rs1380987629
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.06
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available