P24R (p.Pro24Arg) variant of SUFU (Suppressor of fused homolog)
P24R (p.Pro24Arg) in SUFU (Suppressor of fused homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs587776579
- gnomAD 10-102504216-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.60
- Population evidence available
- Structural context available
- Cited in: Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. (PMID 19833601)