R130G (p.Arg130Gly) variant of MCM6 (Q14566)
R130G (p.Arg130Gly) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R130G (p.Arg130Gly) variant details
- p.Arg130Gly
- ExAC rs773494816
- TOPMed rs773494816
- gnomAD rs773494816
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available