A18P (p.Ala18Pro) variant of MCCC2 (Q9HCC0)
A18P (p.Ala18Pro) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- gnomAD 5-71587473-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available