L5R (p.Leu5Arg) variant of BMPR2 (Q13873)
L5R (p.Leu5Arg) 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 and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- Ensembl rs1690174755
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.35
- AlphaMissense 0.05
- MetaLR 0.51
- MetaSVM -0.54
- CADD 10.40
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available