L20M (p.Leu20Met) variant of BMPR2 (Q13873)
L20M (p.Leu20Met) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- TOPMed rs1365521743
- gnomAD rs1365521743
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.30
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available