R6M (p.Arg6Met) variant of MCCC2 (Q9HCC0)
R6M (p.Arg6Met) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R6M (p.Arg6Met) variant details
- p.Arg6Met
- gnomAD 5-71587442-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available