L9Q (p.Leu9Gln) variant of MCCC2 (Q9HCC0)
L9Q (p.Leu9Gln) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- gnomAD 5-71587451-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.50
- CADD 21.20
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available