P149S (p.Pro149Ser) variant of MCM6 (Q14566)
P149S (p.Pro149Ser) in MCM6 (Q14566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
P149S (p.Pro149Ser) variant details
- p.Pro149Ser
- rs774059991
- UniProt VAR 088369
- Ensembl rs774059991
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues. (PMID 37198333)