P15S (p.Pro15Ser) variant of SUFU (Suppressor of fused homolog)
P15S (p.Pro15Ser) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs761921681
- ClinGen CA377886234
- ClinVar RCV002333729
- ExAC rs761921681
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.00
- CADD 17.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs28942088)
- UniProt: Uncertain significance (in dbSNP:rs28942088)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)