L14V (p.Leu14Val) variant of BMPR2 (Q13873)
L14V (p.Leu14Val) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- ExAC rs760946823
- gnomAD rs760946823
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available