P23S (p.Pro23Ser) variant of SUFU (Suppressor of fused homolog)
P23S (p.Pro23Ser) 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 Medulloblastoma; Gorlin syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs766666529
- ClinGen CA5667587
- ClinVar RCV000574522
- ClinVar RCV000821320
- Conflicting interpretations
- Medulloblastoma; Gorlin syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.06
- AlphaMissense 0.06
- MetaLR 0.11
- MetaSVM -0.92
- CADD 22.50
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Medulloblastoma; Gorlin syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-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)