L5P (p.Leu5Pro) variant of BMPR2 (Q13873)
L5P (p.Leu5Pro) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs1690174755
- ClinGen CA350396558
- ClinVar RCV002389907
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.05
- MetaLR 0.51
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)