R50R (p.Arg50Arg) variant of BMPR2 (Q13873)
R50R (p.Arg50Arg) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs201759998
- gnomAD 2-202464882-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 14.00
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Literature evidence available