P39L (p.Pro39Leu) variant of BMPR2 (Q13873)
P39L (p.Pro39Leu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary pulmonary hypertension; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs770804811
- ClinGen CA2061039
- cosmic curated COSV65809
- ClinVar RCV003597107
- Conflicting interpretations
- Primary pulmonary hypertension; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.64
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Primary pulmonary hypertension; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)