Q28R (p.Gln28Arg) variant of BMPR2 (Q13873)
Q28R (p.Gln28Arg) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- gnomAD 2-202464815-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available