L59del (p.Leu59del) variant of BMPR2 (Q13873)
L59del (p.Leu59del) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L59del (p.Leu59del) variant details
- gnomAD 2-202464904-ATAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available