P16A (p.Pro16Ala) variant of SUFU (Suppressor of fused homolog)
P16A (p.Pro16Ala) 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 0.32 / 1. The record also includes published literature and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs978312925
- ClinGen CA377886246
- ClinVar RCV002938160
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.20
- 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)