L33I (p.Leu33Ile) variant of BMPR2 (Q13873)
L33I (p.Leu33Ile) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L33I (p.Leu33Ile) variant details
- p.Leu33Ile
- gnomAD 2-202464829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 17.00
- PolyPhen-2 0.20
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available