R19Q (p.Arg19Gln) variant of MCM2 (P49736)
R19Q (p.Arg19Gln) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- ExAC rs756651624
- gnomAD rs756651624
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.02
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available