Q48K (p.Gln48Lys) variant of MCM6 (Q14566)
Q48K (p.Gln48Lys) 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.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- ESP rs141075051
- ExAC rs141075051
- TOPMed rs141075051
- gnomAD rs141075051
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.05
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available