R1557G (p.Arg1557Gly) variant of CHD7 (Q9P2D1)
R1557G (p.Arg1557Gly) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R1557G (p.Arg1557Gly) variant details
- p.Arg1557Gly
- rs1804990594
- ClinGen CA371318967
- ClinVar RCV001321147
- Ensembl rs1804990594
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.80
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)