L20L (p.Leu20Leu) variant of BMPR2 (Q13873)
L20L (p.Leu20Leu) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs765376013
- gnomAD 2-202377534-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available