P6R (p.Pro6Arg) variant of SUFU (Suppressor of fused homolog)
P6R (p.Pro6Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs2135597134
- ClinGen CA377886100
- ClinVar RCV001363131
- Ensembl rs2135597134
- Uncertain significance
- Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.14
- MetaLR 0.27
- MetaSVM -0.51
- PolyPhen-2 0.57
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome)
- 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)