Q41R (p.Gln41Arg) variant of BMPR2 (Q13873)
Q41R (p.Gln41Arg) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- gnomAD 2-202464854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.64
- CADD 23.60
- PolyPhen-2 0.65
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available