P23A (p.Pro23Ala) variant of SUFU (Suppressor of fused homolog)
P23A (p.Pro23Ala) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs766666529
- ClinGen CA377886330
- ClinVar RCV001316062
- ClinVar RCV004951510
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.06
- MetaLR 0.11
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.24
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)