L10* (p.Leu10Ter) variant of BMPR1A (P36894)
L10* (p.Leu10Ter) in BMPR1A (P36894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L10* (p.Leu10Ter) variant details
- p.Leu10Ter
- gnomAD 10-86876047-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available