P20A (p.Pro20Ala) variant of SUFU (Suppressor of fused homolog)
P20A (p.Pro20Ala) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs936379170
- ClinGen CA212238100
- ClinVar RCV003035878
- ClinVar RCV003459715
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.20
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)