P15L (p.Pro15Leu) variant of BMPR2 (Q13873)
P15L (p.Pro15Leu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- TOPMed rs1432200219
- gnomAD rs1432200219
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.17
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available