R27G (p.Arg27Gly) variant of MCM5 (P33992)
R27G (p.Arg27Gly) in MCM5 (P33992) 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 0.34 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs1213676370
- ClinGen CA411356479
- ClinVar RCV003848213
- TOPMed rs1213676370
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available