A24E (p.Ala24Glu) variant of BMPR2 (Q13873)
A24E (p.Ala24Glu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- rs370120266
- ClinGen CA2061011
- NCI-TCGA Cosmic COSV6580
- cosmic curated COSV65808
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)