P31S (p.Pro31Ser) variant of SUFU (Suppressor of fused homolog)
P31S (p.Pro31Ser) 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 Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1554840836
- ClinGen CA377886430
- ClinVar RCV001359421
- ClinVar RCV005503115
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- AlphaMissense 0.73
- MetaLR 0.43
- MetaSVM -0.36
- CADD 27.30
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)