T2I (p.Thr2Ile) variant of BDNF (P23560)
T2I (p.Thr2Ile) in BDNF (P23560) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- rs8192466
- ClinGen CA258058
- cosmic curated COSV10512
- ClinVar RCV000019266
- Conflicting interpretations
- not specified; not provided; Obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.41
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Obesity)
- EBI: Likely benign (found in a patient with congenital central hypoventilation syndr)
- UniProt: Likely benign (found in a patient with congenital central hypoventilation syndr)
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Cited in: Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA… (PMID 11840487)
- Cited in: An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and… (PMID 20208042)