Q42Q (p.Gln42Gln) variant of BMPR2 (Q13873)
Q42Q (p.Gln42Gln) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q42Q (p.Gln42Gln) variant details
- p.Gln42Gln
- gnomAD 2-202464858-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available