Q34H (p.Gln34His) variant of MCCC2 (Q9HCC0)
Q34H (p.Gln34His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q34H (p.Gln34His) variant details
- p.Gln34His
- gnomAD 5-71587527-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.33
- CADD 10.80
- PolyPhen-2 0.10
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available