R10L (p.Arg10Leu) variant of MCCC2 (Q9HCC0)
R10L (p.Arg10Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 5-71587454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.39
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available