V21L (p.Val21Leu) variant of BMPR2 (Q13873)
V21L (p.Val21Leu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- gnomAD 2-202377535-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available