L31M (p.Leu31Met) variant of MCCC2 (Q9HCC0)
L31M (p.Leu31Met) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- gnomAD 5-71587516-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.49
- CADD 20.70
- PolyPhen-2 0.69
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available