D26T (p.Asp26Thr) variant of MCCC2 (Q9HCC0)
D26T (p.Asp26Thr) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D26T (p.Asp26Thr) variant details
- p.Asp26Thr
- gnomAD 5-71587497-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available