P15A (p.Pro15Ala) variant of SUFU (Suppressor of fused homolog)
P15A (p.Pro15Ala) 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; Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- rs761921681
- ClinGen CA377886232
- ClinVar RCV001366244
- ClinVar RCV002329374
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medull)
- EBI: Variant of uncertain significance (in dbSNP:rs28942088)
- UniProt: Uncertain significance (in dbSNP:rs28942088)
- 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)