S73L (p.Ser73Leu) variant of BMPR2 (Q13873)
S73L (p.Ser73Leu) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S73L (p.Ser73Leu) variant details
- p.Ser73Leu
- gnomAD rs137852742
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.36
- AlphaMissense 0.13
- MetaLR 0.87
- MetaSVM 0.74
- CADD 22.80
- PolyPhen-2 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available