Q6Q (p.Gln6Gln) variant of BMPR2 (Q13873)
Q6Q (p.Gln6Gln) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q6Q (p.Gln6Gln) variant details
- p.Gln6Gln
- gnomAD 2-202377492-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 12.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available