P24A (p.Pro24Ala) variant of SUFU (Suppressor of fused homolog)
P24A (p.Pro24Ala) 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 Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1219870817
- ClinGen CA377886343
- ClinVar RCV001026035
- ClinVar RCV001063730
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.05
- MetaLR 0.13
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.17
- EVE 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma; Go)
- 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)