R7Q (p.Arg7Gln) variant of BMPR2 (Q13873)
R7Q (p.Arg7Gln) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- TOPMed rs1167351312
- gnomAD rs1167351312
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.13
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.44
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available