P23R (p.Pro23Arg) variant of MCM2 (P49736)
P23R (p.Pro23Arg) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- gnomAD 3-127599379-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available