S4L (p.Ser4Leu) variant of BMPR2 (Q13873)
S4L (p.Ser4Leu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- TOPMed rs922087863
- gnomAD rs922087863
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available