P16R (p.Pro16Arg) variant of SUFU (Suppressor of fused homolog)
P16R (p.Pro16Arg) in SUFU (Suppressor of fused homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- gnomAD 10-102504192-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 28.30
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available