R18W (p.Arg18Trp) variant of MCM2 (P49736)
R18W (p.Arg18Trp) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs775610133
- ClinGen CA2595461
- ClinVar RCV003850582
- ExAC rs775610133
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available