V7M (p.Val7Met) variant of MCCC1 (Q96RQ3)
V7M (p.Val7Met) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- TOPMed rs1718991860
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- CADD 16.30
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available