G47S (p.Gly47Ser) variant of BMPR2 (Q13873)
G47S (p.Gly47Ser) in BMPR2 (Q13873) is a missense change. 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.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- TOPMed rs1692288347
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available