R20L (p.Arg20Leu) variant of BMPR1A (P36894)
R20L (p.Arg20Leu) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- rs759014147
- ClinGen CA377774861
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6440
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.64
- MutPred 0.38
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)