I37L (p.Ile37Leu) variant of SUFU (Suppressor of fused homolog)
I37L (p.Ile37Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
I37L (p.Ile37Leu) variant details
- p.Ile37Leu
- rs745793517
- ClinGen CA377886497
- ClinVar RCV003177396
- ExAC rs745793517
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.28
- MetaLR 0.32
- MetaSVM -0.65
- PolyPhen-2 0.00
- SIFT 0.79
- EVE 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign (in dbSNP:rs745793517)
- UniProt: Benign (in dbSNP:rs745793517)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)