R27C (p.Arg27Cys) variant of MCM5 (P33992)
R27C (p.Arg27Cys) in MCM5 (P33992) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- TOPMed rs1213676370
- gnomAD rs1213676370
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.11
- CADD 25.90
- PolyPhen-2 0.33
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available