T23S (p.Thr23Ser) variant of BMPR2 (Q13873)
T23S (p.Thr23Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- ESP rs140659948
- ExAC rs140659948
- TOPMed rs140659948
- gnomAD rs140659948
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.21
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available