P10S (p.Pro10Ser) variant of SUFU (Suppressor of fused homolog)
P10S (p.Pro10Ser) 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. 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.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs975936230
- ClinGen CA212238074
- ClinVar RCV001364016
- Ensembl rs975936230
- Uncertain significance
- Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.09
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.68
- CADD 22.90
- PolyPhen-2 0.07
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-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)