A14R (p.Ala14Arg) variant of SUFU (Suppressor of fused homolog)
A14R (p.Ala14Arg) in SUFU (Suppressor of fused homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- gnomAD 10-102504191-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available