V11L (p.Val11Leu) variant of BMPR2 (Q13873)
V11L (p.Val11Leu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- ExAC rs767166903
- TOPMed rs767166903
- gnomAD rs767166903
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.25
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available