I2688R (p.Ile2688Arg) variant of CHD7 (Q9P2D1)
I2688R (p.Ile2688Arg) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I2688R (p.Ile2688Arg) variant details
- p.Ile2688Arg
- rs755066542
- ClinGen CA16043667
- ClinVar RCV000414784
- ExAC rs755066542
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.60
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)