I137L (p.Ile137Leu) variant of MCM6 (Q14566)
I137L (p.Ile137Leu) in MCM6 (Q14566) 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.
I137L (p.Ile137Leu) variant details
- p.Ile137Leu
- TOPMed rs1002471707
- gnomAD rs1002471707
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.26
- CADD 26.60
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available