Q48E (p.Gln48Glu) variant of MCM6 (Q14566)
Q48E (p.Gln48Glu) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- ESP rs141075051
- ExAC rs141075051
- TOPMed rs141075051
- gnomAD rs141075051
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available