L30R (p.Leu30Arg) variant of BMPR1A (P36894)
L30R (p.Leu30Arg) 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 0.57 / 1. The record also includes published literature and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- rs1194403044
- ClinGen CA377446310
- ClinVar RCV000580173
- ClinVar RCV001853865
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.42
- MetaLR 0.55
- MetaSVM 0.10
- PolyPhen-2 0.99
- SIFT 0.07
- MutPred 0.55
- 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)