P10A (p.Pro10Ala) variant of SUFU (Suppressor of fused homolog)
P10A (p.Pro10Ala) 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 published literature and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs975936230
- ClinGen CA377886145
- ClinVar RCV003805860
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.68
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)