A25G (p.Ala25Gly) variant of SUFU (Suppressor of fused homolog)
A25G (p.Ala25Gly) in SUFU (Suppressor of fused homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- rs587776579
- gnomAD 10-102504216-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. (PMID 19833601)