Q1214P (p.Gln1214Pro) variant of CHD7 (Q9P2D1)
Q1214P (p.Gln1214Pro) 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 0.87 / 1. The record also includes published literature and structural context.
Q1214P (p.Gln1214Pro) variant details
- p.Gln1214Pro
- rs1804454889
- ClinGen CA371315419
- ClinVar RCV001211110
- Ensembl rs1804454889
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)