Q34K (p.Gln34Lys) variant of MCCC2 (Q9HCC0)
Q34K (p.Gln34Lys) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- gnomAD 5-71587525-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.33
- CADD 9.35
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available