R7G (p.Arg7Gly) variant of BMPR2 (Q13873)
R7G (p.Arg7Gly) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- gnomAD 2-202377493-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available