T2S (p.Thr2Ser) variant of BMPR2 (Q13873)
T2S (p.Thr2Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- TOPMed rs1690174370
- Uncertain significance
- Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.18
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1; Pulmonary venoocclusive dise)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available