A14del (p.Ala14del) variant of SUFU (Suppressor of fused homolog)
A14del (p.Ala14del) in SUFU (Suppressor of fused homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A14del (p.Ala14del) variant details
- rs1238391585
- gnomAD 10-102504191-CGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 20.30
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available