P32L (p.Pro32Leu) variant of SUFU (Suppressor of fused homolog)
P32L (p.Pro32Leu) 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 0.41 / 1. The record also includes published literature and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs2135598107
- ClinGen CA377886448
- ClinVar RCV001998240
- ClinVar RCV004671585
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.34
- MetaLR 0.39
- MetaSVM -0.27
- PolyPhen-2 0.62
- SIFT 0.07
- EVE 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medull)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)