F36L (p.Phe36Leu) variant of BMPR2 (Q13873)
F36L (p.Phe36Leu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- gnomAD 2-202464840-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.71
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available