L30P (p.Leu30Pro) variant of BMPR1A (P36894)
L30P (p.Leu30Pro) in BMPR1A (P36894) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs1194403044
- ClinGen CA377446308
- ClinVar RCV002376336
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.26
- AlphaMissense 0.42
- MetaLR 0.55
- MetaSVM 0.10
- CADD 22.80
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)