L9R (p.Leu9Arg) variant of MCCC2 (Q9HCC0)
L9R (p.Leu9Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- gnomAD 5-71587451-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.55
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available