L126H (p.Leu126His) variant of MCM6 (Q14566)
L126H (p.Leu126His) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L126H (p.Leu126His) variant details
- p.Leu126His
- ExAC rs775002412
- gnomAD rs775002412
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.73
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available