W13C (p.Trp13Cys) variant of BMPR2 (Q13873)
W13C (p.Trp13Cys) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data and structural context.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- TOPMed rs1085307152
- gnomAD rs1085307152
- Uncertain significance
- Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.63
- CADD 23.90
- PolyPhen-2 0.07
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1; Pulmonary venoocclusive dise)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available