D43A (p.Asp43Ala) variant of BMPR2 (Q13873)
D43A (p.Asp43Ala) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D43A (p.Asp43Ala) variant details
- p.Asp43Ala
- gnomAD 2-202464860-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- CADD 22.40
- PolyPhen-2 0.29
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available