E71K (p.Glu71Lys) variant of BMPR2 (Q13873)
E71K (p.Glu71Lys) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary arterial hypertension associated with congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- rs1553503208
- ClinGen CA350399408
- cosmic curated COSV10468
- ClinVar RCV000664171
- Uncertain significance
- Pulmonary arterial hypertension associated with congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.75
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.13
- ClinVar: Uncertain significance (Pulmonary arterial hypertension associated with congenital heart)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available