P12S (p.Pro12Ser) variant of SUFU (Suppressor of fused homolog)
P12S (p.Pro12Ser) 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 Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs2544830097
- ClinGen CA377886176
- ClinVar RCV003782814
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.10
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- 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)