R44G (p.Arg44Gly) variant of MCM2 (P49736)
R44G (p.Arg44Gly) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- gnomAD 3-127599441-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.25
- MetaLR 0.07
- MetaSVM -1.11
- CADD 22.80
- PolyPhen-2 0.55
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available