R136L (p.Arg136Leu) variant of MCM6 (Q14566)
R136L (p.Arg136Leu) in MCM6 (Q14566) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R136L (p.Arg136Leu) variant details
- p.Arg136Leu
- 1000Genomes rs201215953
- ESP rs201215953
- ExAC rs201215953
- TOPMed rs201215953
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available