E2012V (p.Glu2012Val) variant of CHD7 (Q9P2D1)
E2012V (p.Glu2012Val) 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 0.55 / 1. The record also includes published literature and structural context.
E2012V (p.Glu2012Val) variant details
- p.Glu2012Val
- rs1805504949
- ClinGen CA371323979
- ClinVar RCV001958054
- gnomAD rs1805504949
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.25
- MetaLR 0.62
- MetaSVM 0.17
- PolyPhen-2 0.88
- SIFT 0.03
- EVE 0.33
- 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)