R34P (p.Arg34Pro) variant of MCM2 (P49736)
R34P (p.Arg34Pro) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- rs749193916
- ClinGen CA83303741
- ClinVar RCV003733322
- ClinVar RCV004636831
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -1.03
- CADD 27.10
- PolyPhen-2 0.51
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available