S1406R (p.Ser1406Arg) variant of CHD7 (Q9P2D1)
S1406R (p.Ser1406Arg) 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 0.37 / 1. The record also includes published literature and structural context.
S1406R (p.Ser1406Arg) variant details
- p.Ser1406Arg
- rs1804800800
- ClinGen CA371317716
- ClinVar RCV001267753
- Ensembl rs1804800800
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.56
- MetaLR 0.23
- MetaSVM -0.72
- PolyPhen-2 0.02
- SIFT 0.11
- EVE 0.31
- 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)