Q3Q (p.Gln3Gln) variant of BMPR1A (P36894)
Q3Q (p.Gln3Gln) in BMPR1A (P36894) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q3Q (p.Gln3Gln) variant details
- p.Gln3Gln
- rs1589757057
- gnomAD 10-86876027-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 5.25
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available