K74E (p.Lys74Glu) variant of BMPR2 (Q13873)
K74E (p.Lys74Glu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K74E (p.Lys74Glu) variant details
- p.Lys74Glu
- rs757855256
- ClinGen CA2061053
- ClinVar RCV000983865
- ClinVar RCV002427435
- Likely benign
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.96
- ClinVar: Likely benign (Pulmonary arterial hypertension)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)