R40Q (p.Arg40Gln) variant of MCM5 (P33992)
R40Q (p.Arg40Gln) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- TOPMed rs972098548
- gnomAD rs972098548
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.25
- MetaLR 0.08
- MetaSVM -1.06
- CADD 28.40
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available