Q28Q (p.Gln28Gln) variant of BMPR2 (Q13873)
Q28Q (p.Gln28Gln) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q28Q (p.Gln28Gln) variant details
- p.Gln28Gln
- rs754688935
- gnomAD 2-202464816-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 8.57
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available