T102A (p.Thr102Ala) variant of BMPR2 (Q13873)
T102A (p.Thr102Ala) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension associated with congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T102A (p.Thr102Ala) variant details
- p.Thr102Ala
- rs1085307206
- ClinGen CA350399632
- ClinVar RCV000488524
- gnomAD rs1085307206
- Pathogenic
- Pulmonary arterial hypertension associated with congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.87
- CADD 25.50
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Pathogenic (Pulmonary arterial hypertension associated with congenital heart)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available