L5Q (p.Leu5Gln) variant of MCCC2 (Q9HCC0)
L5Q (p.Leu5Gln) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- gnomAD 5-71587439-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.46
- CADD 15.50
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available