P31A (p.Pro31Ala) variant of SUFU (Suppressor of fused homolog)
P31A (p.Pro31Ala) 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 0.45 / 1. The record also includes published literature and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- rs1554840836
- ClinGen CA377886429
- ClinVar RCV000628504
- TOPMed rs1554840836
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.73
- MetaLR 0.43
- MetaSVM -0.36
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 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)