W2L (p.Trp2Leu) variant of MCCC2 (Q9HCC0)
W2L (p.Trp2Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W2L (p.Trp2Leu) variant details
- p.Trp2Leu
- gnomAD 5-71587430-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.41
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available