L5M (p.Leu5Met) variant of MCCC2 (Q9HCC0)
L5M (p.Leu5Met) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 5-71587438-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.24
- CADD 11.70
- PolyPhen-2 0.09
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available