G56R (p.Gly56Arg) variant of BMPR2 (Q13873)
G56R (p.Gly56Arg) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- gnomAD 2-202464898-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.69
- CADD 26.60
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available