P15L (p.Pro15Leu) variant of SUFU (Suppressor of fused homolog)
P15L (p.Pro15Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs28942088
- ClinGen CA116361
- ClinVar RCV000003750
- ClinVar RCV004772827
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in dbSNP:rs28942088)
- UniProt: Pathogenic (in dbSNP:rs28942088)
- Structural context available
- Cited in: Mutations in SUFU predispose to medulloblastoma. (PMID 12068298)