L101R (p.Leu101Arg) variant of VHL (P40337)
L101R (p.Leu101Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L101R (p.Leu101Arg) variant details
- p.Leu101Arg
- rs1553619456
- NCI-TCGA Cosmic COSV5654
- NCI-TCGA Cosmic COSV5656
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)