R17G (p.Arg17Gly) variant of MCM2 (P49736)
R17G (p.Arg17Gly) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 3-127599360-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.03
- CADD 16.60
- PolyPhen-2 0.25
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available