S73T (p.Ser73Thr) variant of BMPR2 (Q13873)
S73T (p.Ser73Thr) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S73T (p.Ser73Thr) variant details
- p.Ser73Thr
- TOPMed rs1364793883
- gnomAD rs1364793883
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available