P23R (p.Pro23Arg) variant of SUFU (Suppressor of fused homolog)
P23R (p.Pro23Arg) 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; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs2062290972
- ClinGen CA377886336
- ClinVar RCV003781915
- ClinVar RCV004573314
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.24
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)