D38N (p.Asp38Asn) variant of BMPR2 (Q13873)
D38N (p.Asp38Asn) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- gnomAD 2-202464844-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.58
- CADD 27.60
- PolyPhen-2 0.93
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available