S30* (p.Ser30Ter) variant of MCCC2 (Q9HCC0)
S30* (p.Ser30Ter) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- gnomAD 5-71587514-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available