A2V (p.Ala2Val) variant of MCM2 (P49736)
A2V (p.Ala2Val) in MCM2 (P49736) 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 0.36 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1247401070
- gnomAD rs1247401070
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.16
- MetaLR 0.02
- MetaSVM -0.94
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available