K1076E (p.Lys1076Glu) variant of CHD7 (Q9P2D1)
K1076E (p.Lys1076Glu) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; 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.
K1076E (p.Lys1076Glu) variant details
- p.Lys1076Glu
- rs1804153455
- ClinGen CA371311449
- ClinVar RCV001172187
- ClinVar RCV001379714
- Likely pathogenic
- not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.90
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.45
- ClinVar: Likely pathogenic (not provided; 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)