L9M (p.Leu9Met) variant of MCCC2 (Q9HCC0)
L9M (p.Leu9Met) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- gnomAD 5-71587450-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.27
- CADD 17.90
- PolyPhen-2 0.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available