L50L (p.Leu50Leu) variant of BMPR1A (P36894)
L50L (p.Leu50Leu) in BMPR1A (P36894) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs964544915
- gnomAD 10-86890142-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available