L30L (p.Leu30Leu) variant of BMPR1A (P36894)
L30L (p.Leu30Leu) in BMPR1A (P36894) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1564714758
- gnomAD 10-86890084-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 9.76
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available