R30M (p.Arg30Met) variant of MCCC1 (Q96RQ3)
R30M (p.Arg30Met) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R30M (p.Arg30Met) variant details
- p.Arg30Met
- TOPMed rs976406300
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.48
- CADD 33.00
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available