T13P (p.Thr13Pro) variant of SUFU (Suppressor of fused homolog)
T13P (p.Thr13Pro) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gorlin syndrome; Medulloblastoma; Joubert syndrome 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T13P (p.Thr13Pro) variant details
- p.Thr13Pro
- rs1456048322
- ClinGen CA377886198
- cosmic curated COSV64015
- ClinVar RCV000988446
- Conflicting interpretations
- Gorlin syndrome; Medulloblastoma; Joubert syndrome 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.14
- AlphaMissense 0.05
- MetaLR 0.06
- MetaSVM -1.04
- CADD 11.50
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Medulloblastoma; Joubert syndrome 32)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.029)
- 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)