L1294P (p.Leu1294Pro) variant of CHD7 (Q9P2D1)
L1294P (p.Leu1294Pro) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L1294P (p.Leu1294Pro) variant details
- p.Leu1294Pro
- rs864309609
- ClinGen CA249352
- ClinVar RCV000203151
- ClinVar RCV000258103
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. (PMID 16400610)
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)