T23I (p.Thr23Ile) variant of BMPR2 (Q13873)
T23I (p.Thr23Ile) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- rs140659948
- ClinGen CA2061008
- ClinVar RCV003082228
- ClinVar RCV004963429
- Conflicting interpretations
- Inborn genetic diseases; Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.21
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Primary pulmonary hypertension)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)