P24T (p.Pro24Thr) variant of SUFU (Suppressor of fused homolog)
P24T (p.Pro24Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- rs1219870817
- ClinGen CA377886340
- cosmic curated COSV64016
- ClinVar RCV003787629
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.08
- AlphaMissense 0.05
- MetaLR 0.13
- MetaSVM -1.04
- CADD 18.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)