L49V (p.Leu49Val) variant of MCM6 (Q14566)
L49V (p.Leu49Val) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- ExAC rs777924501
- TOPMed rs777924501
- gnomAD rs777924501
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- AlphaMissense 0.89
- MetaLR 0.20
- MetaSVM -0.84
- CADD 15.00
- PolyPhen-2 0.99
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available