A2A (p.Ala2Ala) variant of MCM2 (P49736)
A2A (p.Ala2Ala) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs777313854
- gnomAD 3-127598472-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 28.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available