P16T (p.Pro16Thr) variant of SUFU (Suppressor of fused homolog)
P16T (p.Pro16Thr) 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 not provided; Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- rs978312925
- ClinGen CA212238099
- ClinVar RCV001210588
- ClinVar RCV001574638
- Uncertain significance
- not provided; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.00
- CADD 20.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Gorlin syndrome; Medulloblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)