T13H (p.Thr13His) variant of SUFU (Suppressor of fused homolog)
T13H (p.Thr13His) in SUFU (Suppressor of fused homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T13H (p.Thr13His) variant details
- p.Thr13His
- gnomAD 10-102504182-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 25.00
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available